Volume 97; Issue 4

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Human Genetics
Volume 97; Issue 4

Human Genetics

Volume 97; Issue 4

1

The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population

Tatsuya Takeshita,Xiao-Quan Mao,Kanehisa Morimoto

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Year:

1996

Language:

english

File:

PDF, 56 KB

english, 1996

2

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization

Giuseppe Calabrese,Rita Mingarelli,Paola Francalanci,Renata Boldrini…

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Year:

1996

Language:

english

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PDF, 44 KB

english, 1996

3

Genetic analysis of twenty-two patients with Cockayne syndrome

Miria Stefanini,Heather Fawcett,Elena Botta,Tiziana Nardo…

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Year:

1996

Language:

english

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PDF, 76 KB

english, 1996

4

Mutations of theBtkgene in 12 unrelated families with X-linked agammaglobulinemia in Japan

Shigetoshi Kobayashi,Tsutomu Iwata,Makiko Saito,Ryu Iwasaki…

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Year:

1996

Language:

english

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PDF, 860 KB

english, 1996

5

Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2

Susumu Higuchi,Taro Muramatsu,Sachio Matsushita,Masanobu Murayama…

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Year:

1996

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english

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PDF, 25 KB

english, 1996

6

A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

Hiroko Soda,Shigenori Yukizane,Ichiro Yoshida,Yasutoshi Koga…

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Year:

1996

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english

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PDF, 27 KB

english, 1996

7

SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: Polymorphisms detected in South African black and white subjects

Vanessa R. Panz,Paul Ruff,Barry I. Joffe,Mary-Anne Kedda…

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Year:

1996

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english

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PDF, 38 KB

english, 1996

8

Identification and characterization of three genes and two pseudogenes on chromosome 13

Maria de Fatima Bonaldo,Pierre Jelenc,Long Su,Lee Lawton,M. -T. Wu…

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Year:

1996

Language:

english

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PDF, 396 KB

english, 1996

9

An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite

Nenad Bukvic,Francesco Susca,Mattia Gentile,Emanuele Tangari…

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Year:

1996

Language:

english

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PDF, 66 KB

english, 1996

10

Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type

Yu-Lin Ko,Jin-Jer Chen,Tang-K. Tang,Ming-Sheng Teng,Sheng-Yu Lin…

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Year:

1996

Language:

english

File:

PDF, 41 KB

english, 1996

11

Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map

Tamilla Nechiporuk,Alex Nechiporuk,Xiaoping Guan,Richard Frederick…

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Year:

1996

Language:

english

File:

PDF, 46 KB

english, 1996

12

Novel trinucleotide deletion in Fabry's disease

Marios A. Cariolou,Michael Christodoulides,Panayiotis Manoli…

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Year:

1996

Language:

english

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PDF, 37 KB

english, 1996

13

Activation status of the X chromosome in human micronucleated lymphocytes

James D. Tucker,Joginder Nath,John C. Hando

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Year:

1996

Language:

english

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PDF, 107 KB

english, 1996

14

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

C. Camaschella,A. Roetto,P. Gasparini,A. Piperno,P. Fortina…

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Year:

1996

Language:

english

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PDF, 159 KB

english, 1996

15

A novel (TA)npolymorphism in the hexokinase II gene: Application to noninsulin-dependent diabetes mellitus in the Pima Indians

Hossein Ardehali,George E. Tiller,Richard L. Printz…

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Year:

1996

Language:

english

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PDF, 32 KB

english, 1996

16

A solitary human H3 histone gene on chromosome 1

Werner Albig,Jens Ebentheuer,Gustav Klobeck,Jürgen Kunz…

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Year:

1996

Language:

english

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PDF, 403 KB

english, 1996

17

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms

Paolo Gasparini,Leonardo D'Agruma,Gian Pio de Cillis,Paolo Balestrazzi…

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Year:

1996

Language:

english

File:

PDF, 62 KB

english, 1996

18

Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Hiroyuki Tsunoda,Toshio Ohshima,Jun Tohyama,Masayuki Sasaki…

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Year:

1996

Language:

english

File:

PDF, 67 KB

english, 1996

19

No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

Roelof-Jan Oostra,Stephan Kemp,Pieter A. Bolhuis…

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Year:

1996

Language:

english

File:

PDF, 37 KB

english, 1996

20

Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: Evidence for a defect in gonadal ridge development

John S. Fuqua,Ellen S. Sher,Elizabeth J. Perlman,Maria D. Urban…

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Year:

1996

Language:

english

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PDF, 450 KB

english, 1996

21

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

Etienne Mornet,Corinne Chateau,Agnès Taillandier,Brigitte Simon-Bouy…

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Year:

1996

Language:

english

File:

PDF, 64 KB

english, 1996

22

Proportion of the GSTM 10/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases

V. S. Baranov,T. Ivaschenko,B. Bakay,M. Aseev,R. Belotserkovskaya…

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Year:

1996

Language:

english

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PDF, 42 KB

english, 1996

23

Alternative splicing of dystrophin exon 4 in normal human muscle

Silvia Torelli,Francesco Muntoni

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Year:

1996

Language:

english

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PDF, 34 KB

english, 1996

24

The enigma of common fragile sites

I. Simonic,G. S. Gericke

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Year:

1996

Language:

english

File:

PDF, 176 KB

english, 1996

25

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

Joan E. Pellegrino,Rhonda E. Schnur,Leslie Boghosian-Sell…

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Year:

1996

Language:

english

File:

PDF, 174 KB

english, 1996

26

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

J. Ramón Bilbao,Liliane Loridan,Luis Castaño

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Year:

1996

Language:

english

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PDF, 48 KB

english, 1996

27

Congenital alacrima in a patient with G (Opitz Frias) syndrome

Munis Dundar,Kuddusi Erkiliç,Fatma Demiryilmaz,Mustafa Küçükaydin…

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Year:

1996

Language:

english

File:

PDF, 197 KB

english, 1996

28

A polymorphism but no mutations in the GADD45 gene in breast cancers

H. Blaszyk,A. Hartmann,S. S. Sommer,J. S. Kovach

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Year:

1996

Language:

english

File:

PDF, 31 KB

english, 1996

29

Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

P. Jézéquel,B. Chauvel,A. Le Treut,J. Y. Le Gall,V. David…

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Year:

1996

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english

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PDF, 25 KB

english, 1996

30

Announcements

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Year:

1996

Language:

english

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PDF, 129 KB

english, 1996

31

Mutations of theBtkgene in 12 unrelated families with X-linked agammaglobulinemia in Japan

Kobayashi, S., Iwata, Tsutomu, Saito, Makiko, Iwasaki, R., Matsumoto, Hiroshi, Naritaka, Shinichi, Kono, Yoichi, Hayashi, Yasuhide

Journal:

Year:

1996

Language:

english

File:

PDF, 169 KB

english, 1996