Volume 97; Issue 2

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Human Genetics
Volume 97; Issue 2

Human Genetics

Volume 97; Issue 2

1

Programs, databases, and expert systems for human geneticists — a survey

Christine Fischer,Sabine Schweigert,Cord Spreckelsen,Friedrich Vogel

Journal:

Year:

1996

Language:

english

File:

PDF, 1.17 MB

english, 1996

2

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion

S. Debrus,G. Berger,A. de Meeus,U. Sauer,S. Guillaumont,M. Voisin…

Journal:

Year:

1996

Language:

english

File:

PDF, 707 KB

english, 1996

3

Association of CTG repeats and the 1-kbAluinsertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation

Hidehisa Yamagata,Tetsuro Miki,Masanori Nakagawa,Keith Johnson…

Journal:

Year:

1996

Language:

english

File:

PDF, 348 KB

english, 1996

4

Arylsulfatase A pseudodeficiency in Chinese

Wuh-Liang Hwu,Lee-Ping Tsai,Wen-Chuan Wang,Shu-Chuan Chuang…

Journal:

Year:

1996

Language:

english

File:

PDF, 259 KB

english, 1996

5

Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells

A. Massari,G. Novelli,A. Colosimo,F. Sangiuolo,G. Palka,G. Calabrese…

Journal:

Year:

1996

Language:

english

File:

PDF, 827 KB

english, 1996

6

Sex difference in the regulation of plasma high density lipoprotein cholesterol by genetic and environmental factors

Heikki Kauma,Markku J. Savolainen,Riitta Heikkilä,Asko O. Rantala…

Journal:

Year:

1996

Language:

english

File:

PDF, 918 KB

english, 1996

7

A common region of loss of heterozygosity in Wilms' tumor and embryonal rhabdomyosarcoma distal to the D11S988 locus on chromosome 11p15.5

Corinne Besnard-Guérin,Irene Newsham,Robert Winqvist…

Journal:

Year:

1996

Language:

english

File:

PDF, 1.45 MB

english, 1996

8

Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male

Edith Chevret,Sophie Rousseaux,Michèle Monteil,Yves Usson,Jean Cozzi…

Journal:

Year:

1996

Language:

english

File:

PDF, 491 KB

english, 1996

9

Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype

Toshiki Itoh,James E. Cleaver,Masaru Yamaizumi

Journal:

Year:

1996

Language:

english

File:

PDF, 433 KB

english, 1996

10

Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: Its application to prenatal screening for X-linked hyper-IgM syndrome

Kuniaki Seyama,Shiro Kira,Kazumi Ishidoh,Sanae Souma…

Journal:

Year:

1996

Language:

english

File:

PDF, 916 KB

english, 1996

11

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

Jutta Wirth,Thomas Wagner,Jobst Meyer,Rudolf A. Pfeiffer…

Journal:

Year:

1996

Language:

english

File:

PDF, 1.30 MB

english, 1996

12

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

Ernst W. Krasemann,V. Meier,G. C. Korenke,D. H. Hunneman,F. Hanefeld

Journal:

Year:

1996

Language:

english

File:

PDF, 554 KB

english, 1996

13

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Tord C. Olsen,Hans G. Eiken,Per M. Knappskog,Bengt F. Kase…

Journal:

Year:

1996

Language:

english

File:

PDF, 570 KB

english, 1996

14

Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients

Marion Mandl,Reiner Caspari,Anna Jauch,Thorsten Böker,Heidrun Raschke…

Journal:

Year:

1996

Language:

english

File:

PDF, 546 KB

english, 1996

15

Identification of four novel splice site mutations in the ornithine transcarbamylase gene

Elisabeth Oppliger Leibundgut,Bendicht Wermuth,Jean-Pierre Colombo…

Journal:

Year:

1996

Language:

english

File:

PDF, 688 KB

english, 1996

16

Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene?

Miguel Urioste,Isabel Lorda-Sánchez,Manuel Blanco,Elena Burón…

Journal:

Year:

1996

Language:

english

File:

PDF, 545 KB

english, 1996

17

Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction

Thomas Eggermann,Markus M. Nöthen,Bernd Eiben,Dieter Hofmann…

Journal:

Year:

1996

Language:

english

File:

PDF, 706 KB

english, 1996

18

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2

Lan Kluwe,Victor -F. Mautner

Journal:

Year:

1996

Language:

english

File:

PDF, 479 KB

english, 1996

19

A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis

R. Raha-Chowdhury,D. J. Bowen,M. Worwood

Journal:

Year:

1996

Language:

english

File:

PDF, 451 KB

english, 1996

20

Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain

Emma Holder,Masato Maeda,Roger D. Bies

Journal:

Year:

1996

Language:

english

File:

PDF, 1.05 MB

english, 1996

21

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation

Andrew J. Green,Tiina Sepp,John R. W. Yates

Journal:

Year:

1996

Language:

english

File:

PDF, 454 KB

english, 1996

22

Psychosis and genes with trinucleotide repeat polymorphism

Tsukasa Sasaki,Elizabeth Billett,Arturas Petronis,Dajun Ying…

Journal:

Year:

1996

Language:

english

File:

PDF, 345 KB

english, 1996

23

X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe

Philippe Camus,Naïma Abbadi,Marie-Christine Perrier,Michèle Chéry…

Journal:

Year:

1996

Language:

english

File:

PDF, 545 KB

english, 1996

24

CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations

Yuri K. Maliaka,Alla P. Chudina,Nicodim F. Belev,Pablo Alday…

Journal:

Year:

1996

Language:

english

File:

PDF, 92 KB

english, 1996

25

The murine homolog of the human breast and ovarian cancer susceptibility geneBrca1maps to mouse chromosome 11D

Evelin Schröck,Priscilla Badger,Denise Larson,Michael Erdos…

Journal:

Year:

1996

Language:

english

File:

PDF, 621 KB

english, 1996

26

HbF-Lesvos: An HbF variant due to a novel Gγmutation (:Gγ75 ATA→ACA) detected in a Greek family

Manoussos N. Papadakis,George P. Patrinos,Olga Drakoulakou…

Journal:

Year:

1996

Language:

english

File:

PDF, 223 KB

english, 1996

27

Population study of the G1691A mutation (R506% FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

A. Braun,B. Müller,A. A. Rosche

Journal:

Year:

1996

Language:

english

File:

PDF, 25 KB

english, 1996

28

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations

Sandro Muntoni,Heiko Wiebusch,Harald Funke,Udo Seedorf,Martin Roskos…

Journal:

Year:

1996

Language:

english

File:

PDF, 259 KB

english, 1996

29

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

Trond P. Leren,Hilde Sundvold,Olaug K. Rødningen,Serena Tonstad…

Journal:

Year:

1996

File:

PDF, 33 KB

1996

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