Volume 100; Issue 5-6

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Human Genetics
Volume 100; Issue 5-6

Human Genetics

Volume 100; Issue 5-6

1

Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families

Stephan Francke, Karine Clement, Christian Dina, Hiroshi Inoue, Philip Behn, Vincent Vatin, Arnaud Basdevant, Bernard Guy-Grand, M. Alan Permutt, Philippe Froguel, J. Hager

Journal:

Year:

1997

Language:

english

File:

PDF, 48 KB

english, 1997

2

Characterisation of humanpatchedgerm line mutations in naevoid basal cell carcinoma syndrome

N. J. Lench, Elizabeth A. R. Telford, Alec S. High, Alexander F. Markham, Carol Wicking, Brandon J. Wainwright

Journal:

Year:

1997

Language:

english

File:

PDF, 116 KB

english, 1997

3

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

M. Milà, Aurora Sànchez, Cèlia Badenas, Carme Brun, Dolores Jiménez, M. Paula Villa, Sergi Castellví-Bel, Xavier Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

4

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

Kamiab Tavassoli, Antonin Eigel, Hartmut Pollmann, Jürgen Horst

Journal:

Year:

1997

Language:

english

File:

PDF, 32 KB

english, 1997

5

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

E. Mornet, Françoise Muller, Annie Lenvoisé-Furet, Anne-Lise Delezoide, Jean-Yves Col, Brigitte Simon-Bouy, Jean-Louis Serre

Journal:

Year:

1997

Language:

english

File:

PDF, 20 KB

english, 1997

6

Isolation and characterization of new microsatellites at the nm23-H1 and nm23-H2 gene loci and application for loss of heterozygosity (LOH) analysis

Markus Seifert, Birgit Theisinger, Matthias Engel, Thomas Seib, Gerhardt Seitz, Manfred Stolte, Karin Hilgert, C. Welter

Journal:

Year:

1997

Language:

english

File:

PDF, 38 KB

english, 1997

7

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

J. C. Oosterwijk, Gabriela Richard, Michiel J. R. van der Wielen, E. van de Vosse, Wolfgang Harth, Lodewijk A. Sandkuijl, Egbert Bakker, Gert-Jan B. van Ommen

Journal:

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

8

Localisation and distance between ABL and BCR genes in interphase nuclei of bone marrow cells of control donors and patients with chronic myeloid leukaemia

Emílie Lukášová, Stanislav Kozubek, Michal Kozubek, Jana Kjeronská, Leonard Rýznar, Jana Horáková, Eva Krahulcová, Gerda Horneck

Journal:

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

9

Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes

Jeffrey T. Lell, Michael D. Brown, Theodore G. Schurr, R. I. Sukernik, Yelena B. Starikovskaya, Antonio Torroni, Lorna G. Moore, Gary M. Troup, D. C. Wallace

Journal:

Year:

1997

Language:

english

File:

PDF, 57 KB

english, 1997

10

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

A. M. Jouanolle, Patricia Fergelot, Gwénola Gandon, Jacqueline Yaouanq, Jean Yves Le Gall, Véronique David

Journal:

Year:

1997

Language:

english

File:

PDF, 27 KB

english, 1997

11

Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani

S. Weg-Remers, M. Brenden, E. Schwarz, K. Witzel, P. M. Schneider, L. K. Guerra, I. R. Rehfeldt, M. T. Lima, D. Hartmann, M. L. Petzl-Erler, I. J. T. de Messias, G. Mauff

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

12

A splicing mutation in RB1 in low penetrance retinoblastoma

E. L. Schubert, Louise C. Strong, M. F. Hansen

Journal:

Year:

1997

Language:

english

File:

PDF, 92 KB

english, 1997

13

High-throughput analysis of Fragile X (CGG)nalleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

L. Allan Larsen, Karen Grønskov, Bent Nørgaard-Pedersen, Karen Brøndum-Nielsen, Lis Hasholt, Jens Vuust

Journal:

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

14

AFX1andp54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism

Usha Peters, Gerd Haberhausen, Markus Kostrzewa, Dagmar Nolte, U. Müller

Journal:

Year:

1997

Language:

english

File:

PDF, 147 KB

english, 1997

15

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

E. Schulze-Bahr, W. Haverkamp, H. Wedekind, C. Rubie, M. Hördt, M. Borggrefe, G. Assmann, G. Breithardt, H. Funke

Journal:

Year:

1997

Language:

english

File:

PDF, 36 KB

english, 1997

16

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents

J.-G. Chang, Yuh-Jyh Jong, Shuan-Pei Lin, Bing-Wen Soong, Chang-Hai Tsai, T.-Y. Yang, Chih-Peng Chang, Wen-Shin Wang

Journal:

Year:

1997

Language:

english

File:

PDF, 50 KB

english, 1997

17

Genetic variation of the 5-HT2Areceptor gene and bipolar affective disorder

Blanca Gutiérrez, Jaume Bertranpetit, David Collier, María J. Arranz, Vicenç Vallès, Roser Guillamat, Jim van Os, L. Fañanás

Journal:

Year:

1997

Language:

english

File:

PDF, 22 KB

english, 1997

18

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome

E. Battiloro, Barbara Angeletti, Maria Cristina Tozzi, Lida Bruni, Sergio Tondini, Piero Vignetti, Roberto Verna, E. D’Ambrosio

Journal:

Year:

1997

Language:

english

File:

PDF, 32 KB

english, 1997

19

The spatial distribution of human immunoglobulin genes within the nucleus: evidence for gene topography independent of cell type and transcriptional activity

L. Parreira, Margarida Telhada, Carlos Ramos, Rosa Hernandez, Hélia Neves, Maria Carmo-Fonseca

Journal:

Year:

1997

Language:

english

File:

PDF, 181 KB

english, 1997

20

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2

H. Kehrer-Sawatzki, Thomas Schwickardt, Günter Assum, Mariano Rocchi, Winfrid Krone

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

21

Novel germline mutations in theAPCgene and their phenotypic spectrum in familial adenomatous polyposis kindreds

C. Walon, Alex Kartheuser, Geneviève Michils, Michèle Smaers, Nathalie Lannoy, Patrick Ngounou, G. Mertens, Christine Verellen-Dumoulin

Journal:

Year:

1997

Language:

english

File:

PDF, 34 KB

english, 1997

22

TwoSRY-negative XX male brothers without genital ambiguity

Juan Carlos Zenteno, Marisol López, Clementina Vera, Juan Pablo Méndez, S. Kofman-Alfaro

Journal:

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

23

The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13

Darek Kedra, Eyal Seroussi, Ingegerd Fransson, Jasmina Trifunovic, Melody Clark, Jacob Lagercrantz, Elisabeth Blennow, Hans Mehlin, J. Dumanski

Journal:

Year:

1997

Language:

english

File:

PDF, 120 KB

english, 1997

24

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2–q24.3

Shangzhi Huang, Zhuyu, H. Li, Labu, Baizhu, Wilson H. Y. Lo, Christine Fischer, F. Vogel, Zhuyu, Baizhu, Labu

Journal:

Year:

1997

Language:

english

File:

PDF, 49 KB

english, 1997

25

X chromosome inactivation and micronuclei in normal and Turner individuals

John C. Hando, James D. Tucker, Marsha Davenport, James Tepperberg, J. Nath

Journal:

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

26

Frequent gains on chromosome arms 1q and/or 8q in human endometrial cancer

Akihiko Suzuki, Shinichi Fukushige, Satoru Nagase, Noriaki Ohuchi, Susumu Satomi, A. Horii

Journal:

Year:

1997

Language:

english

File:

PDF, 237 KB

english, 1997

27

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

Hiroyuki Ikeda, Y. Matsubara, Hitoshi Mikami, Shigeo Kure, Misao Owada, Tamara Gough, Peter M. Smooker, Marion Dobbs, Hans-Henrik M. Dahl, Richard G. H. Cotton, Kuniaki Narisawa

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

28

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

S. Kleinle, U. Wiesmann, A. Superti-Furga, S. Krähenbühl, E. Boltshauser, J. Reichen, S. Liechti-Gallati

Journal:

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

29

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

Neelu Puri, Donna Durham-Pierre, Robert Aquaron, Patricia M. Lund, Richard A. King, M. H. Brilliant

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

30

Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

The European Consortium on MEN1, J. H. D. Bassett, A. A. J. Pannett, S. A. Forbes, R. V. Thakker, M. McCarthy, A. P. Read, B. T. Teh, C. Larsson, S. Kytölä, J. Leisti, P. Salmela, G. Weber, S. Giraud,

Journal:

Year:

1997

Language:

english

File:

PDF, 65 KB

english, 1997

31

Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes

Giorgio Bertorelle, G. Barbujani

Journal:

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

32

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

O. Bartsch, Georg K. Hinkel, Michael B. Petersen, Ulrich König, Merete Bugge, Margareta Mikkelsen, Dimitris Avramopoulos, Michael Morris, Stylianos E. Antonarakis

Journal:

Year:

1997

Language:

english

File:

PDF, 488 KB

english, 1997

33

Different entities of proximal spinal muscular atrophy within one family

B. Wirth, D. Tessarolo, E. Hahnen, S. Rudnik-Schöneborn, H. Raschke, M. Liguori, M. Giacanelli, K. Zerres

Journal:

Year:

1997

Language:

english

File:

PDF, 206 KB

english, 1997

34

New p57KIP2mutations in Beckwith-Wiedemann syndrome

I. Hatada, Akira Nabetani, Hiroko Morisaki, Zhenghan Xin, Sachiko Ohishi, Hidefumi Tonoki, Norio Niikawa, Masahiro Inoue, Yosuke Komoto, Akira Okada, Elisabeth Steichen, Hirofumi Ohashi, Yoshimitsu Fu

Journal:

Year:

1997

Language:

english

File:

PDF, 26 KB

english, 1997

35

Isolation by distance in Germany

I. Barrai, C. Scapoli, M. Beretta, C. Nesti, E. Mamolini, A. Rodriguez-Larralde

Journal:

Year:

1997

Language:

english

File:

PDF, 33 KB

english, 1997

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