FORSCHUNGSBERICHT 1999-2001

INDEX

Institut für Rechtsmedizin Institut für Klinische Biochemie

Forschungsbericht Medizinische Fakultät

Institut für Humangenetik

Allgemeine Angaben:
Wilhelmstraße 31, 53111 Bonn
Telefon: 0228 / 287-2346
Fax: 0228 / 287-2380
eMail: propping@uni-bonn.de
WWW: http://www.meb.uni-bonn.de/humgen.index.html

Barr CL, Xu C, Kroft J, Feng Y, Wigg K, Zai G, Tannock R, Schachar R, Malone M, Roberts W, Nöthen MM, Grünhage F, Vandenbergh DJ, Uhl G, Sunohara G, King N, Kennedy JL:
Haplotype study of three polymorphisms at the dopamine transporter locus confirm linkage to attention-deficit/hyperactivity disorder.
Biological Psychiatry 49 (2001): 333-339

Becker AJ, Lobach M, Klein H, Normann S, Nothen MM, von Deimling A, Mizuguchi M, Elger CE, Schramm J, Wiestler OD, Blumcke I:
Mutational analysis of TSC1 and TSC2 genes in gangliogliomas.
Neuropathology and Applied Neurobiology 27 (2001): 105-114

Berkovic SF, Steinlein OK
Genetics of partial epilepsies.
In: Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ (eds): Jasper's basic mechanisms of the epilepsies. Third Edition: Advances in Neurology, Vol 79. Lippincott Williams & Wilkins, Philadelphia, (1999): 375-381

Betz RC, Lee Y-A, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HHW, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Am J Hum Genet 66 (2000): 1979-1983

Betz RC, Schoser BGH, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee Y-A, Nöthen MM, Wienker TF, Malin J-P, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C:
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Nat Genet 28 (2001): 218-219

Biervert C, Steinlein OK:
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
Hum Genet 104 (1999): 234-240

Bolz H, Brederlow B von, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Caballeró Vila M, Pelaez Molina O, Gal A, Kubisch C:
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Nat Genet 27 (2001): 108-112

Bolz H, Ramírez A, Brederlow B von, Kubisch C:
Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.
Biochim Biophys Acta 1522 (2001): 221-225

Bosse K, Betz RC, Lee Y-A, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM:
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Am J Hum Genet 67 (2000): 492-497

Brühl P, Schwanitz G, Mallmann R, Müller SC, Raff R:
Bardet-Biedl-Syndrom: nephrourologische und humangenetische Aspekte.
Klin Pädiatr 213 (2001): 8-12

Brüss M, Bönisch H, Bühlen M, Nöthen MM, Propping P, Göthert M:
Modified ligand binding to the naturally occurring Cys-124 variant of the human serotonin 5-HT1B receptor.
Pharmacogenetics 9 (1999): 95-102

Caspari R, Jungck M, Lamberti C, Schmidt-Wolf IGH, Friedl W, Propping P:
Diagnostik hereditärer kolorektaler Karzinome.
Dtsch med Wschr 125 (2000): 153-158

Caspari R, Uhlhaas S, Friedl W, Knapp M, Propping P:
Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26.
Am J Med Genet 93 (2000): 290-293

Cichon S, Kruse R, Hillmer AM, Kukuk G, Anker M, Altland K, Knapp M, Propping P, Nöthen MM:
A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family.
Brit J Dermatol 143 (2000): 811-814

Cichon S, Kruse R, Nothen MM:
Settling the score on hairless - Reply.
Journal of Investigative Dermatology 115 (2000): 763-764

Cichon S, Nöthen MM, Rietschel M, Propping P:
Pharmacogenetics of schizophrenia.
Am J Med Genet (Semin Med Genet) 97 (2000): 98-106

Cichon S, Schmidt-Wolf G, Schumacher J, Müller DJ, Hürter M, Schulze TG, Albus M, Borrmann-Hassenbach M, Franzek E, Lanczik M, Fritze J, Kreiner R, Weigelt B, Minges J, Lichtermann D, Lerer B, Kanyas K, Strauch K, Windemuth C, Baur MP, Wienker TF, Maier W, Rietschel M, Propping P, Nöthen MM:
A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25-q26.
Mol Psychiatr 6 (2001): 342-349

Cichon S, Schumacher J, Müller DJ, Hürter M, Windemuth C, Strauch K, Hemmer S, Schulze TG, Schmidt-Wolf G, Albus M, Borrmann-Hassenbach M, Franzek E, Lanczik M, Fritze J, Kreiner R, Reuner U, Weigelt B, Minges J, Lichtermann D, Lerer B, Kanyas K, Baur MP, Wienker TF, Maier W, Rietschel M, Propping P, Nöthen MM:
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q.
Hum Mol Genet 10 (2001): 2933-2944

Deckert J, Catalano M, Syagailo YV, Bosi M, Okladnova O, Di Bella D, Nöthen MM, Maffei P, Franke P, Fritze J, Maier W, Propping P, Beckmann H, Bellodi L, Lesch K-P:
Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder.
Hum Mol Genet 8 (1999): 621-624

Deckert J, Meyer J, Catalano M, Bosi M, Sand P, DiBella D, Ortega G, Stöber G, Franke P, Nöthen MM, Fritze J, Maier W, Beckmann H, Propping P, Bellodi L, Lesch K-P:
Novel 5'-regulatory region polymorphisms of the 5-HT2C receptor gene: association study with panic disorder.
Int J Neuropsychoph 3 (2000): 321-325

Dedek K, Kunath B, Kananura C, Reuner C, Jentsch TJ, Steinlein OK:
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Proc Natl Acad Sci USA 98 (2001): 12272-12277

Dietel M, Propping P:
Molekulare Diagnostik (Kongressbericht).
Deutsches Ärzteblatt 98 (2001): A 1978-1980

Eggermann T, Bujdosó B, Haug T, Heidrich-Kaul C, Hofmann D, Fekete G, Dobos M, Schwanitz G:
A 18-as kromoszóma rendellenességeinek eredete és jelentösége a genetikai tanácsadásban.
Orvosi Hetilap 141 (2000): 1667-1671

Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G:
Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.
Ann Génét 42 (1999): 75-80

Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl G:
Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).
Neurogenetics 3 (2000): 49-50

Endrizzi M, Huang S, Scharf JM, Kelter A-R, Wirth B, Kunkel LM, Miller W, Dietrich WF:
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Genomics 60 (1999): 137-151

Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH:
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy.
Am J Hum Genet 68 (2001): 866-873

Franke P, Nöthen MM, Wang T, Knapp M, Lichtermann D, Neidt H, Sander T, Propping P, Maier W:
DRD4 exon III VNTR polymorphism - susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach.
Mol Psychiatr 5 (2000): 101-104

Franke P, Nöthen MM, Wang T, Neidt H, Knapp M, Lichtermann D, Weiffenbach O, Mayer P, Höllt V, Propping P, Maier W:
Human delta-opioid receptor gene and susceptibility to heroin and alcohol dependence.
Am J Med Genet (Neuropsychiatr Genet) 88 (1999): 462-464.

Franke P, Wang, T, Nöthen MM, Knapp M, Neidt H, Albrecht S, Jahnes E, Propping P, Maier W:
Nonreplication of association between µ-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependence.
Am J Med Genet (Neuropsychiatr Genet) 105 (2001): 114-119

Franke P, Wang T, Nöthen MM, Knapp M, Neith H, Lichtermann D, Meyer zur Capellen K, Sander T, Propping P, Maier W:
Susceptibility for alcoholims: DRD4 exon III polymorphism: a case-control and a family-based association approach.
Addiction Biology 5 (2000): 289-295

Fridricihova I, Ilendikova D, Friedl W, Hlavcak P, Skorvaga M, Krizan P, Palaj J, Pirsel M, Farkasova E:
Approaches to identification of HNPCC suspected patients in Slovak population.
Neoplasma 47 (2000): 219-226

Friedl W, Caspari R, Sengteller M, Ulhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P:
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.
GUT 48 (2001): 515-521

Friedl W, Kruse R, Jungck M, Back W, Loff S, Propping P, Jenne DE:
Hamartomatöse Polyposis-Syndrome.
Deutsches Ärzteblatt 96 (1999): A-2285-2291

Friedl W, Kruse R, Uhlhaas S, Stolte M, Schartmann B, Keller KM, Jungck M, Stern M, Loff S, Back W, Propping P, Jenne DE:
Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients.
Genes Chromosomes Cancer 25 (1999): 403-406

Friedl W, Lamberti C:
Familiäre adenomatöse Polyposis.
In: Ganten D, Ruckpaul K (Hrsg): Hereditäre Tumorerkrankungen. Springer-Verlag, Berlin, Heidelberg, (2001): 303-329

Friedl W, Mangold E, Caspari R, Lamberti C, Propping P:
Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis.
Gastroenterology 121 (2001): 503-504

Friedl W (1999):
Familiäre adenomatöse Polyposis - Stellenwert der molekulargenetischen Diagnostik.
In: Deutsche Gesellschaft für Chirurgie (Hrsg): Kongreßbericht 1999. München, (1999): 198-202

Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, LeGuern E, Lehesjoki A-E, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M, Zoharn A:
EFNS task force on molecular diagnosis of neurologic disorders: Guidelines for the molecular diagnosis of inherited neurologic diseases (first of two parts).
Eur J Neurol 8 (2001): 299-314

Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, LeGuern E, Lehesjoki A-E, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M, Zoharn A:
EFNS task force on molecular diagnosis of neurologic disorders: Guidelines for the molecular diagnosis of inherited neurologic diseases (second of two parts).
Eur J Neurol 8 (2001): 407-424

Geijer T, Frisch A, Persson M-L, Wasserman D, Rockah R, Michaelovsky E, Apter A, Jönsson EG, Nöthen MM, Weizman A:
Search for association between suicide attempt and serotonergic polymorphisms.
Psychiatr Genet 10 (2000): 19-26

Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F:
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
J Med Genet 37 (2000): 600-602

Grigoroiu-Serbanescu M, Martinez M, Nöthen MM, Grinberg M, Sima D, Propping P, Marinescu E, Hrestic M:
Different familial transmission patterns in bipolar I disorder with onset before and after age 25.
Am J Med Genet (Neuropsychiatr Genet) 105 (2001): 765-773

Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C:
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21.
Am J Hum Genet 65 (1999): 1459-1462

Grünhage F, Schulze TG, Müller DJ, Lanczik M, Franzek E, Albus M, Borrmann-Hassenbach M, Knapp M, Cichon S, Maier W, Rietschel M, Propping P, Nöthen MM:
Systematic screening for DNA sequence variation in the coding region of the human dopamine transporter gene (DAT1).
Mol Psychiatr 5 (2000): 275-282

Gustavsson JP, Nöthen MM, Jönsson E, Neidt H, Forslund K, Rylander G, Mattila-Evenden M, Sedvall G, Propping P, Asberg M:
No association between serotonin transporter gene polymorphisms and personality traits.
Am J Med Genet (Neuropsychiatr Genet) 88 (1999): 430-436

Haidl G, Peschka B, Schwanitz G, Montag M, van der Ven K, van der Ven H:
Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility.
Asian Journal of Andrology 2 (2000): 293-296

Hallermann C, Mucher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schoneborn SR, Munterfering H, Zerres K:
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
American Journal of Medical Genetics 90 (2000): 115-119

Hallmann K, Durner M, Sander T, Steinlein OK:
Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.
Am J Med Genet (Neuropsychiatr Genet) 96 (2000): 8-11

Haug K, Hallmann K, Horvath S, Sander T, Kubisch C, Rau B, Dullinger J, Beyenburg S, Elger CE, Propping P, Heils A:
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy.
Epilepsy Research 42 (2000): 57-62

Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger CE, Propping P, Heils A:
The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
Epilepsy Res 47 (2001): 243-246

Haug K, Kohlschmidt N, Dereser-Dennl M, Zielinski J, Merz E, Schäfer D:
Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome?
Am J Med Genet 101 (2001): 255-258

Haug K, Kremerskothen J, Hallmann K, Sander T, Dullinger J, Rau B, Beyenburg S, Lentze MJ, Barnekow A, Elger CE, Propping P, Heils A:
Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.
Mol Cell Probes 14 (2000): 255-260

Haug K, Sander T, Hallmann K, Lentze MJ, Propping P, Elger CE, Heils A:
Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy.
Epilepsy Research 39 (2000): 127-132

Haug K, Sander T, Hallmann K, Rau B, Dullinger JS, Elger CE, Propping P, Heils A:
The voltage-gated sodium channel ß2-subunit gene and idiopathic generalized epilepsy.
NeuroReport 11 (2000): 2687-2689

Haverkamp F, Wolfle J, Aretz M, Kramer A, Hohmann B, Fahnenstich H, Zerres K:
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic couselling.
European Journal of Pediatrics 158 (1999): 474-478

Haverkamp F, Wolfle J, Zerres K, Butenandt O, Amendt P, Hauffa BP, Weimann E, Bettendorf M, Keller E, Muhlenberg R, Partsch CJ, Sippell WG, Hoppe C:
Growth retardation in turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure.
Journal of Clinical Endocrinology and Metabolism 84 (1999): 4578-4582

Heils A, Haug K, Kunz WS, Fernandez G, Horvath S, Rebstock J, Propping P, Elger CE:
Interleukin-1ß gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis.
Ann Neurol 48 (2000): 948-950

Helmken C, Wetter A, Rudnik-Schöneborn S, Liehr T, Zerres K, Wirth B:
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
Eur J Hum Genet 8 (2000): 493-499

Helmken C, Wirth B:
Exclusion of Htra2-ß1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.
Hum Genet 107 (2000): 554-558

Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S:
Variant 1859G-A(Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenetic alopecia.
Am J Hum Genet 69 (2001): 235-237

Hofmann, Y, Lorson CL, Stamm S, Androphy EJ, Wirth B:
Htra2-ß1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2).
Proc Natl Acad Sci USA 97 (2000): 9618-9623

Hofmann Y, Becker J, Wright F, Avner ED, Mrug M, Guay-Woodford LM, Somlo S, Zerres K, Germino GG, Onuchic LF:
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a cancidate for autosomal recessive polycystic kidney disease.
Eur J Hum Genet 8 (2000): 163-166

Holinski-Feder E, Muller-Koch Y, Friedl W, Moselein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohse P, Murken J, Meitinger T:
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
Journal of Biochemical and Biophysical Methods 47 (2001): 21-32

Honnefelder L, Propping P (Hrsg):
Was wissen wir, wenn wir das menschliche Genom kennen?
DuMont, Köln 2001

Jablonka S, Bandilla M, Wiese S, Bühler D, Wirth B, Sendtner M, Fischer U:
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.
Hum Mol Genet 10 (2001): 497-505

Jönsson EG, Ivo R, Forslund K, Mattila-Evenden M, Rylander G, Cichon S, Propping P, Nöthen MM, Asberg M, Sedvall GC:
No association between a promoter dopamine D4 receptor gene variant and schizophrenia.
Am J Med Genet (Neuropsychiatr Genet) 105 (2001): 525-528

Jönsson EG, Nöthen MM, Grünhage F, Farde L, Nakashima Y, Propping P, Sedvall GC:
Polymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers.
Mol Psychiatr 4 (1999): 290-296

Jönsson EG, Nöthen MM, Gustavsson JP, Berggard C, Bunzel R, Forslund K, Rylander G, Mattila-Evenden M, Propping, P, Asberg M, Sedvall G:
No association between serotonin 2A receptor gene variants and personality traits.
Psychiatr Genet 11 (2001): 11-17

Jönsson EG, Nöthen MM, Neidt H, Forslund K, Rylander G, Mattila-Evenden M, Asberg M, Propping P, Sedvall GC:
Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia.
Schizophr Res 40 (1999): 31-36

Jungck M, Friedl W, Propping P:
Die genetischen Grundlagen erblicher Tumorkrankheiten des Menschen.
Onkologe 5 (1999): 855-866

Jungck M, Friedl W, Propping P:
Erblich bedingte gastointestinale Tumorerkrankungen.
Internist 40 (1999): 502-512

Jungck M, Propping P:
Humangenetische Beratung bei erblichen Tumordispositionserkrankungen.
In: Ganten D, Ruckpaul K (Hrsg): Hereditäre Tumorerkrankungen. Springer-Verlag, Berlin, Heidelberg (2001): 13-21

Kalz-Füller B, Sleegers E, Schwanitz G, Schubert R:
Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.
Clin Genet 55 (1999): 362-366

Kananura C, Biervert C, Hechenberger M, Engels H, Steinlein OK:
The new voltage gated potassium channel KCNQ5 and neonatal convulsions.
NeuroReport 11 (2000): 2063-2067

Kelter A-R, Herchenbach J, Wirth B:
The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1.
Genomics 70 (2000): 315-326

Koch A, Waha A, Tonn JC, Sorensen N, Berthold F, Wolter M, Reifenberger J, Hartmann W, Friedl W, Reifenberger G, Wiestler OD, Pietsch T:
Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors.
International Journal of Cancer 93 (2001): 445-449

Kornak U, Bösl MR, Kubisch C:
Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes.
Biochim Biophys Acta 1447 (1999): 100-106

Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C:
Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis.
Hum Mol Genet 9 (2000): 2059-2063

Körner-Uebel J, Propping P:
Teil D: Kausale konstellative und prädisponierende Faktoren. Kapitel 25: Genetik.
In: Marneros A (Hrsg): Handbuch der unipolaren und bipolaren Erkrankungen. Georg Thieme, Stuttgart, New York (1999): 305-338

Kruse R, Cichon S, Anker M, Hillmer AM, Barros-Núnez P, Cantú JM, Leal E, Weinlich G, Schmuth M, Fritsch P, Ruzicka T, Propping P, Nöthen MM:
Novel hairless mutations in two kindreds with autosomal recessive papular atrichia.
J Invest Dermatol 113 (1999): 954-959

Kruse R, Rütten A, Hosseiny-Malayeri HR, Bisceglia M, Friedl W, Propping P, Ruzicka T, Mangold E:
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.
J Invest Dermatol 116 (2001): 463-465

Kruse R, Rütten A, Hosseiny Malayeri HR, Günzl H-J, Friedl W, Propping P:
A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor.
J Invest Dermatol 112 (1999): 117-118

Kruse R, Uhlhaas S, Lamberti C, Keller KM, Jackisch C, Steinhard J, Knöpfle G, Loff S, Back W, Stolte M, Jungck M, Propping P, Friedl W, Jenne DE:
Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene.
Hum Mutat 13 (1999): 257-258

Kubisch C, Bolz H, Gal A:
Genetik und molekulare Grundlagen der nicht-syndromalen Taubheit.
In: Ganten D, Ruckpaul K (Hrsg): Handbuch der Molekularen Medizin, Band 7: Monogen bedingte Erbkrankheiten, Teil 2. Springer-Verlag, Berlin, Heidelberg (2000): 115-149

Kubisch C:
Erbliche Hörstörungen im Kindesalter.
medgen 13 (2001): 155-160

Kühn K-U, Meyer K, Nöthen MM, Gänsicke M, Papassotiropoulos A, Maier W:
Allelic variants of dopamine receptor D4 (DRD4) and serotonin receptor 5HT2c (HTR2c) and temperament factors: replication tests.
Am J Med Genet (Neuropsychiatr Genet) 88 (1999): 168-172

Lamberti C, Kruse R, Ruelfs C, Caspari R, Wang Y, Jungck M, Mathiak M, Malayeri HRH, Friedl W, Sauerbruch T, Propping P:
Microsatellite instability - a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.
Gut 44 (1999): 839-843

Lauschke H, Caspari R, Friedl W, Schwarz B, Mathiak M, Propping P, Hirner A:
Detection of APC and k-ras mutations in the serum of patients with colorectal cancer.
Cancer Detect Prev 25 (2001): 55-61

Lee WL, Biervert C, Hallmann K, Tay A, Dean JCS, Steinlein OK:
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
Neuropediatrics 31 (2000): 9-12

Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klingler W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK:
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
Ann Neurol 46 (1999): 305-312

Lerer B, Macciardi F, Segman RH, Adolfsson R, Blackwood D, Blairy S, DelFavero J, Dikeos DG, Kaneva R, Lilli R, Massat I, Milanova V, Muir W, Noethen M, Oruc L, Petrova T, Papadimitriou GN, Rietschel M, Serretti A, Souery D, Van Gestel S, Van Broeckhoven C, Mendlewicz J:
Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder.
Molecular Psychiatry 6 (2001): 579-585

Leygraaf J, Schwanitz G, Raff R, van der Ven K:
Partielle Trisomie 2 bei einem Kind nach In-Vitro-Fertilisation (IVF) aufgrund der unbalancierten Weitergabe einer maternalen Translokation 2/15.
Geburtsh Frauenheilk 59 (1999): 232-234

Lorson CL, Hahnen E, Androphy EJ, Wirth B:
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Proct Natl Acad Sci 96 (1999): 6307-6311

Ludolph AC, Rudnik-Schöneborn S, Zerres K:
Spinale Muskelatrophien.
In: Hopf H Ch, Deuschl G, Diener H Ch, Reichmann H (Hrsg): Neurologie in Praxis und Klinik, Band II. Georg Thieme, Stuttgart, New York, 3. Aufl. (1999): 142-147

Mangold E, Diepolder H, Lohse P, Pape GR, Ritter MM:
Porphyria cutanea tarda related to genetically linked iron overload in compound heterozygous anlage for 2 mutations in the hemochromatosis gene.
Internist 41 (2000): 1103-1107

Mangold E, Friedl W, Propping P
Erbliches kolorektales Karzinom: Prädiktive Diagnostik und genetische Beratung.
Praxis 90 (2001): 490-496

Mangold E, Friedl W, Propping P:
Erbliches kolorektales Karzinom: Prädiktive Diagnostik und genetische Beratung.
In: Roth SL et al. (Hrsg.): Klinische Onkologie 2000/'01. Dressler & Schreiner GmbH, Düsseldorf (2000): 209-214

Mangold E, Friedl W, Propping P:
Erbliches kolorektales Karzinom. Was kann die molekulargenetische Diagnostik leisten?
Onkologe 6 (2000): 465-472

Maringa M, Uhlhaas S, Kreyer E, Friedl W, Propping P, Schmutzler RK:
Large deletions in the BRCA1 gene are not common in a set of familial German breast cancer patients.
Disease Markers 15 (1999): 95-95

Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T:
A 7-es kromoszóma uniparentalis disomiája a Silver-Russel-syndroma kóreredetében.
Évfolyam 142 (2001): 1561-1564

Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T:
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.
Ann Génét 43 (2000): 15-21

Mortier W, Zerres K:
Kongenitale Myopathien.
In: Hopf H Ch, Deuschl G, Diener H Ch, Reichmann H (Hrsg): Neurologie in Praxis und Klinik, Band II. Georg Thieme, Stuttgart, New York, 3. Aufl. (1999): 474-514

Müller DJ, Schulze TG, Knapp M, Held T, Krauss H, Weber T, Ahle G, Maroldt A, Alfter D, Maier W, Nöthen MM, Rietschel M:
Familial occurence of tardive dyskinesia.
Acta Psychiatr Scand 104 (2001): 375-379

Nakken KO, Magnusson A, Steinlein OK:
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.
Epilepsia 40 (1999): 88-92

Neumann HPH, Krumme B, van Velthoven V, Orszagh M, Zerres K:
Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease.
Nephrology Dialysis Transplantation 14 (1999): 936-939

Niesler B, Flohr T, Nöthen MM, Fischer C, Rietschel M, Franzek E, Albus M, Propping P, Rappold GA:
Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder.
Pharmacogenetics 11 (2001): 471-475

Niesler B, Weiss B, Fischer C, Nöthen MM, Propping P, Bondy B, Rietschel M, Maier W, Albus M, Franzek E, Rappold GA:
Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients.
Pharmacogenetics 11 (2001): 21-27

Nöthen MM, Cichon S, Rohleder H, Hemmer S, Franzek E, Fritze J, Albus M, Borrmann-Hassenbach M, Kreiner R, Weigelt B, Minges J, Lichtermann D, Maier W, Craddock N, Fimmers R, Holler T, Baur MP, Rietschel M, Propping P:
Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families.
Mol Psychiatr 4 (1999): 76-84

Nöthen MM, Schulte-Körne G, Grimm T, Cichon S, Vogt IR, Müller-Myhsok B, Propping P, Remschmidt H:
Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to chromosome 15.
European Child and Adolescent Psychiatry 8, Suppl 3 (1999): III/56-III/59

Nöthen MM:
Wir brauchen Visionen. Genforschung muß Neues wagen.
Frankfurter Allgemeine Zeitung Nr. 27 (1. Februar 2001), S. 53

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AOM:
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Nature Genet 24 (2000): 275-278

Olesen C, Hansen C, Bendsen E, Byskov AG, Schwinger E, Lopez-Pajares I, Jensen PKA, Kristoffersson U, Schubert R, Van Assche E, Wahlstroem J, Lespinasse J, Tommerup N:
Identification of human candidate genes for male infertility by digital differential display.
Mol Hum Reprod 7 (2001): 11-20

Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, Engels H, Schwanitz G, Schubert R:
Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.
Prenat Diagn 19 (1999): 1143-1149

Peschka B, Leygraaf J, van der Ven K, Montag M, Schartmann B, Schubert R, van der Ven H, Schwanitz G:
Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection.
Hum Reprod 14 (1999): 2257-2263

Picard F, Bertrand S, Steinlein OK, Bertrand D:
Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine.
Epilepsia 40 (1999): 1198-1209

Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K:
ADULT syndrome allelic to limb mammary syndrome (LMS)?
Am J Med Genet 90 (2000): 179-182

Propping P, Friedl W:
Molekulare Grundlagen erblicher Erkrankungen mit Krebsdisposition.
In: Bundesärztekammer (Hrsg): Fortschritte und Fortbildung in der Medizin, Band 23 (1999/2000). Deutscher Ärzte-Verlag Köln (1999): 59-70

Propping P, Jungck M:
Erbliche Krankheiten mit Krebsdisposition: Prädiktive Diagnostik und genetische Beratung.
In: Bundesärztekammer (Hrsg.): Fortschritt und Fortbildung in der Medizin, Band 25 (2001/2002). Deutscher Ärzte-Verlag, Köln (2001): 137-146

Propping P:
Der Traum vom perfekten Kind.
Die Zeit Nr. 6 vom 4.2.1999, 31

Propping P:
Molekulare Medizin und Humangenetik. Nicht zwei Seiten derselben Medaille.
medgen 11 (1999): 306-307

Propping P:
Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen: Schlußwort.
Deutsches Ärzteblatt 96, A 290

Propping P:
100 Jahre Genetik. Die Bedeutung der Entschlüsselung des Genoms für die Medizin.
Bonner Universitätsblätter 2000. Gesellschaft von Freunden und Förderern der Rheinischen Friedrich-Wilhelms-Universität zu Bonn (2000): 33-43

Propping P:
Irrtum, Mr. Watson!
Frankfurter Allgemeine Zeitung 230 (2000): 67

Propping P:
Vorgeburtliche Diagnostik.
Das Magazin 11 (2000): 28-30

Propping P:
Wir Erben Mendels.
Frankfurter Allgemeine Zeitung Nr. 145 vom 26.06.2000, 53

Propping P:
Brauchen wir einen nationalen Ethikrat?
Forschung & Lehre 12 (2001): 642-643

Propping P:
Vom Genotyp zum Phänotyp: Zur Frage nach dem genetischen Determinismus.
In: Honnefelder L, Propping P (Hrsg.): Was wissen wir, wenn wir das menschliche Genom kennen? DuMont, Köln 2001, 90-102

Propping P:
Vom Sinn und Ziel der Humangenetik.
In: Honnefelder L, Streffer C (Hrsg): Jahrbuch für Wissenschaft und Ethik: Band 6. Walter de Gruyte. Berlin, New York (2001): 89-106

Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S:
A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.
Am J Gastroenterol 96 (2001): 3016-3020

Raff R, Schubert R, Schwanitz G, van der Ven K, Brühl P:
Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations.
Eur J Pediatr Surg 10 (2000): 270-275

Raff R, Schwanitz G:
Fluorescence in situ hybridization. General principles and clinical application with special emphasis to interphase diagnostics.
Int J Hum Genet 1 (2001): 65-75

Rietschel M, Krauss H, Müller DJ, Schulze TG, Knapp M, Marwinski K, Maroldt A-O, Paus S, Grünhage F, Propping P, Maier W, Held T, Nöthen MM:
Dopamine D3 receptor variant and tardive dyskinesia.
Eur Arch Psychiatry Clin Neurosci 250 (2000): 31-35

Rietschel M, Schorr A, Albus M, Franzek E, Kreiner R, Held T, Knapp M, Müller DJ, Schulze TG, Propping P, Maier W, Nöthen MM:
Association study of the tryptophan hydroxylase gene and bipolar affective disorder using family-based internal controls.
Am J Med Genet (Neuropsychiatr Genet) 96 (2000): 310-311

Rohrmeier T, Putzhammer A, Schoeler A, Sartor H, Dallinger P, Nöthen MM, Propping P, Knapp M, Albus M, Borrmann M, Knothe K, Kreiner R, Franzek E, Lichtermann D, Rietschel M, Maier W, Klein HE, Eichhammer P:
hSKCa3: No association of the polymorphic CAG repeat with bipolar affective disorder and schizophrenia.
Psychiatric Genetics 9 (1999): 169-175

Rudnik-Schöneborn S, Wirth B, Grimm T, Zerres K:
Spinale Muskelatrophien.
In: Ganten D, Ruckpaul K (Hrsg): Monogen bedingte Erbkrankheiten 1. Springer, Berlin (1999): 60-91

Runkel R, Brüss M, Nöthen MM, Stöber G, Propping P, Bönisch H:
Pharmacological properties of naturally occurring variants of the human norepinephrine transporter.
Pharmacogenetics 10 (2000): 397-505

Rutten A, Burgdorf W, Hugel H, Kutzner H, Hosseiny-Malayeri HR, Friedl W, Propping P, Kruse R:
Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome - a histopathologic and molecular genetic study.
Am J Dermatopath 21 (1999): 405-413

Sand P, Lesch K-P, Catalano M, Bosi M, Syagailo YV, Okladnova O, Di Bella D, Maffei P, Heils A, Friess F, Politi E, Nöthen MM, Franke P, Stöber G, Fritze J, Maier W, Propping P, Beckmann H, Bellodi L, Riederer P, Deckert J:
Polymorphic MAO-A and 5-HT-transporter genes: analysis of interactions in panic disorder.
World J Biol Psychiatry 1 (2000): 147-150

Sand PG, Godau C, Riederer P, Peters C, Franke P, Nöthen MM, Stöber G, Fritze J, Maier W, Propping P, Lesch KP, Riess O, Sander T, Beckmann H, Deckert J:
Exonic variants of the GABAB receptor gene and panic disorder.
Psychiatr Genet 10 (2000): 191-194

Schackert HK, Friedl W, Holinski-Feder E, Irrgang B, Möslein G, Pistorius St, Rüschoff J, Saeger H-D:
Molekularbiologie in der Viszeralchirurgie - prädiktive Diagnostik hereditärer Tumoren.
Chir Gastroenterol 15 (1999): 195-201

Scheffer H, Cobben JM, Matthijs G, Wirth B:
Best practice guidelines for molecular analysis in spinal muscular atrophy.
Eur J Hum Genet 9 (2001): 484-491

Schneider C, Reiners K, Friedl W, Ebner R, Toyka KV:
Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies.
J Neurol 247 (2000): 222-223

Schubert R, Schwanitz G:
Solid tissues.
In: Wegner R-D (ed): Diagnostic cytogenetics. Springer, Berlin (1999): 132-141

Schulze TG, Müller DJ, Krauss H, Gross M, Bauer I, Fangerau-Lefèvre H, Illes F, Ohlraun S, Fimmers R, Cichon S, Held T, Propping P, Nöthen MM, Maier W, Rietschel M:
Caught in the trio trap? Potential selection bias inherent to association studies using parent-offspring trios.
Am J Med Genet (Neuropsychiatr Genet) 105 (2001): 351-353

Schulze TG, Müller DJ, Krauss H, Scherk H, Ohlraun S, Syagailo YV, Windemuth C, Neidt H, Grässle M, Papassotiropoulos A, Heun R, Nöthen MM, Maier W, Lesch K-P, Rietschel M:
Association between a functional polymorphism in the monoamine oxidase A gene promoter and major depressive disorder.
Am J Med Genet (Neuropsychiatr Genet) 96 (2000): 801-803

Schulze TG, Muller DT, Krauss H, Marwinski K, Maroldt AO, Fernandez ANY, Fimmers R, Held T, Maier W, Nothen MM, Rietschel M:
Affective symptomatology in schizophrenia: a risk factor for tardive dyskinesia?
European Psychiatry 16 (2001): 71-74

Schulze TG, Schumacher J, Müller DJ, Krauss H, Alfter D, Maroldt A, Ahle G, Maroldt A-O, Novo y Fernández A, Weber T, Held T, Propping P, Maier W, Nöthen MM, Rietschel M:
Lack of association between a functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene and tardive dyskinesia in schizophrenia.
Am J Med Genet (Neuropsychiatr Genet) 105 (2001): 498-501

Schumacher J, Schulze TG, Wienker TF, Rietschel M, Nöthen MM:
Pharmacogenetics of clozapine response.
Lancet 356 (2000): 506-507

Schwanitz G, Eggermann T:
Origin of trisomies.
In: Wegner R-D (ed): Diagnostic cytogenetics. Springer, Berlin (1999): 291-302

Schwanitz G, Gebhart E, Rott H-D:
Gerhard Koch (1913-1999). Erinnerungen an sein Leben und sein Werk.
medgen 12 (2000): 12-13

Schwanitz G, Gebhart E, Rott H-D:
In Memoriam: Gerhard Koch 1913-1999.
Am J Med Genet 95 (2000): 191-192

Schwanitz G, Raff R:
Pränatale Diagnostik von Chromosomenaberrationen.
Annales Nestlé 59 (2001): 1-11

Schwanitz G, Schubert R:
Fluorescence in situ hybridization.
In: Wegner R-D (ed): Diagnostic cytogenetics. Springer, Berlin (1999): 305-334

Serretti A, Rietschel M, Lattuada E, Krauss H, Held T, Nöthen MM, Smeraldi E:
Factor analysis of mania.
Arch Gen Psychiat 56 (1999): 671-672

Sieb JP, Kraner S, Köhler W, Schalke B, Steinlein OK:
Myasthenia gravis und myasthene Syndrome.
Deutsches Ärzteblatt 97 (2000): A3496-A3500

Sieb JP, Kraner S, Rauch M, Steinlein OK:
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by Epsilon-AChR subunit truncating mutations.
Hum Genet 107 (2000): 160-164

Sieb JP, Kraner S, Schrank B, Reitter B, Goebel THH, Tzartos SJ, Steinlein OK:
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG Epsilon-acetylcholine receptor subunit mutation.
Ann Neurol 48 (2000): 379-383

Sieb JP, Kraner S, Steinlein OK, Bufler J:
Kongenitale Myasthenie-Syndrome.
Klin Neurophysiol 31 (2000): 148-154

Souery D, Van Gestel S, Massat I, Blairy S, Adolfsson R, Blackwood D, Del-Favero J, Dikeos D, Jakovljevic M, Kaneva R, Lattuada E, Lerer B, Lilli R, Milanova V, Muir W, Nöthen M, Oruc L, Papadimitriou G, Propping P, Schulze T, Serretti A, Shapira B, Smeraldi E, Stefanis C, Thomson M, Van Broeckhoven C, Mendlewicz J:
Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association study.
Biol Psychiatry 49 (2001): 405-409

Stefan H, Halász P, Gil-Nagel A, Shorvon S, Bauer G, Ben-Menachem E, Perucca E, Wieser HG, Steinlein OK:
Recent advances in the diagnosis and treatment of epilepsy.
Eur J Neurol 8 (2001): 519-539

Steinlein O:
Die Genetik der idiopathischen Epilepsien.
Deutsches Ärzteblatt 96 (1999): A-1346-1350

Steinlein O:
Gene defects in idiopathic epilepsy.
Rev Neurol 155 (1999): 450-453

Steinlein O:
The genetic basis of epilepsy: mutant alleles of ligand and voltage gated ion channels.
Neuroscientist 5 (1999): 295-301

Steinlein O:
Molecular biology in autosomal dominant nocturnal frontal lobe epilepsy.
In: Genton P et al. (eds): Genetics of focal epilepsy: experimental and clinical correlates. John Libbey, London (1999): 179-186

Steinlein O:
Gen.
Naturwissenschaftliche Rundschau 53 (2000): 489-490

Steinlein O:
Retrotransposons - Müll oder Motor der Evolution.
Naturwissenschaftliche Rundschau 53 (2000): 638-639

Steinlein O:
Sequenzierung des menschlichen Genoms in Sicht.
Naturwissenschaftliche Rundschau 53 (2000): 407-408

Steinlein OK, Neubauer BA, Sander T, Song L, Stoodt J, Mount DB:
Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy.
Epilepsy Research 44 (2001): 191-195

Steinlein OK, Noebels JL:
Ion channels and epilepsy in man and mouse.
Curr Opin Genet Dev 10 (2000): 286-291

Steinlein OK, Stoodt J, Biervert C, Janz D, Sander T:
The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy.
NeuroReport 10 (1999): 1163-1166

Steinlein OK, Stoodt J, de Vos RAI, Jansen Steur ENH, Wevers A, Schütz U, Schröder H:
Mutation screening of the CHRNA4 and CHRNB2 nicotinic cholinergic receptor genes in Alzheimer's disease.
NeuroReport 10 (1999): 2919-2922

Steinlein OK, Stoodt J, Mulley J, Berkovic, S, Scheffer IE, Brodtkorb E:
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.
Epilepsia 41 (2000): 529-535

Steinlein OK:
Ordnung im Genom.
Naturwissenschaftliche Rundschau 54 (2001): 487

Steinlein OK:
Genverdoppelung und Evolution.
Naturwissenschaftliche Rundschau 54 (2001): 10

Steinlein OK:
Zweifel am horizontalen Gentransfer.
Naturwissenschaftliche Rundschau 54 (2001): 548

Steinlein OK:
Strategies to identify genes contributing to epilepsy in man.
Acta Neurologica Scandinavica 102 (2000): 19-20

Steinlein OK:
Idiopathic epilepsies with a monogenic mode of inheritance.
Epilepsia 40 (Suppl 3) (1999): 9-11

Steinlein OK:
Benigne familiäre Neugeborenenkrämpfe.
Nervenarzt 71 (2000): 611-615

Steinlein OK:
Genetic analysis of idiopathic epilepsies: the role of ion channel mutations.
In: Lehmann-Horn F, Jurkat-Rott K (eds): Channelopathies - common mechanisms in aura, arrhythmia and alkalosis. Elsevier Science (2000): 181-197

Steinlein OK:
Neuronal nicotinic receptors in human epilepsy.
Eur J Pharmacol 393 (2000): 243-247

Steinlein OK:
Genetische Risikofaktoren für die Alzheimer-Krankheit.
Naturwissenschaftliche Rundschau 54 (2001): 28-29

Steinlein OK:
Genes and mutations in idiopathic epilepsy.
Am J Med Genet (Semin Med Genet) 106 (2001): 139-145

Stöber G, Hebebrand J, Cichon S, Brüss M, Bönisch H, Lehmkuhl G, Poustka F, Schmidt M, Remschmidt H, Propping P, Nöthen MM:
Tourette syndrome and the norepinephrine transporter gene: results of a systematic mutation screening.
Am J Med Genet (Neuropsychiatr Genet) 88 (1999): 158-163

Strauch K, Fimmers R, Wienker TF, Baur MP, Cichon S, Propping P, Nöthen MM:
Strauch et al reply.
Mol Psychiatr 5 (2000): 126-127

Trost D, Engels H, Bauriedel G, Wiebe W, Schwanitz G:
Angeborene kardiovaskuläre Fehlbildungen und chromosomale Mikrodeletionen in 22q11.2.
Dtsch med Wschr 124 (1999): 3-7

Trost D, Wiebe W, Raff R, Schubert R, Engels H, Ergang C, Bauriedel G, Schwanitz G:
Kardiovaskuläre Erkrankungen: Eine Indikation zur zytogenetischen und molekularzytogenetischen Untersuchung.
Herz/Kreisl 31 (1999): 254-258

Trost D, Wiebe W, Uhlhaas S, Schwindt P, Schwanitz G:
Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.
J Med Genet 37 (2000): 452-454

Vogt IR, Shimron-Abarbanell D, Neidt H, Erdmann J, Cichon S, Schulze TG, Müller DJ, Maier W, Albus M, Borrmann-Hassenbach M, Knapp M, Rietschel M, Propping P, Nöthen MM:
Investigation of the human serotonin 6 (5-HT6) receptor gene in bipolar affective disorder and schizophrenia.
Am J Med Genet (Neuropsychiatr Genet) 96 (2000): 217-221

von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter A-R, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B:
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
Hum Genet 105 (1999): 17-27

Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BGH, Mortier W:
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Neurology 57 (2001): 2273-2277

Waldegger S, Moschen I, Ramirez A, Smith RJH, Ayadi H, Lang F, Kubisch C:
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.
Genomics 72 (2001): 43-50

Wang T, Franke P, Neidt H, Cichon S, Knapp M, Lichtermann D, Maier W, Propping P, Nöthen MM:
Association study of the low-activity allele of catechol-O-methyltransferase and alcoholism using a family-based approach.
Mol Psychiatry 6 (2001): 109-111

Wevers A, Burghaus L, Moser N, Witter B, Steinlein OK, Schütz U, Achnitz B, Krempel U, Nowacki S, Pilz K, Stoodt J, Lindstrom J, De Vos RAI, Jansen Steur ENH, Schröder H:
Expression of nicotinic acetylcholine receptors in Alzheimer's disease: postmortem investigations and experimental approaches.
Behavioural Brain Research 113 (2000): 207-215

Wevers A, Witter B, Moser N, Burghaus L, Banerjee C, Steinlein OK, Schutz U, de Vos RA, Steur EN, Lindstrom J, Schroder H:
Classical Alzheimer features and cholinergic dysfunction: towards a unifying hypothesis?
Acta Neurol Scand Suppl 176 (2001): 42-48

Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, Wienker T, Zerres K:
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Am J Hum Genet 64 (1999): 1340-1356

Wirth B:
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
Hum Mutat 15 (2000): 228-237

Wirth B:
Biochemie und Molekulargenetik 2000.
Nachrichten aus der Chemie 49 (2001): 321-324

Xiao JF, Fischer C, Steinlein OK:
Cloning and mutation analysis of the human potassium channel KCNQ2 gene promoter.
Neuroreport 12 (2001): 3733-3739

Zat'ková A, Hahnen E, Wirth B, Kádasi L:
Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.
Hum Hered 50 (2000): 171-174

Zerres K, Rudnik-Schöneborn S:
Genetisch bedingte Nierenerkrankungen.
Internist 40 (1999): 534-542

eMail: Transfer und Öffentlichkeitsarbeit