Volume 97; Issue 5

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Human Genetics
Volume 97; Issue 5

Human Genetics

Volume 97; Issue 5

1

Characterization of the human p57KIP2gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis

Tokino, Takashi, Urano, Tsutomu, Furuhata, Tomohisa, Matsushima, Mieko, Miyatsu, Takashi, Sasaki, Shin, Nakamura, Yusuke

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Year:

1996

Language:

english

File:

PDF, 1.08 MB

english, 1996

2

Genetic deficiencies of the glycogen phosphorylase system

Jan Hendrickx,Patrick J. Willems

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Year:

1996

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english

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PDF, 39 KB

english, 1996

3

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

Ken Tanigawa,Morad Bensidhoum,Noboru Takamura,Hiroyuki Namba…

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Year:

1996

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english

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PDF, 54 KB

english, 1996

4

Assignment of the human ST2 gene to chromosome 2 at q11.2

Shin-ichi Tominaga,Johji Inazawa,Shoji Tsuji

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Year:

1996

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english

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PDF, 163 KB

english, 1996

5

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

Tomonobu Hasegawa,Tsutomu Ogata,Yukihiro Hasegawa,Masataka Honda…

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Year:

1996

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english

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PDF, 155 KB

english, 1996

6

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

Thomas Eggermann,Hartmut Engels,Barbara Moskalonek,Markus M. Nöthen…

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1996

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english

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PDF, 83 KB

english, 1996

7

Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells

Nikolai D. Belyaev,Ann M. Keohane,Bryan M. Turner

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Year:

1996

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english

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PDF, 367 KB

english, 1996

8

Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

W. Friedl,S. Meuschel,C. Lamberti,M. Sengteller,P. Propping…

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Year:

1996

Language:

english

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PDF, 108 KB

english, 1996

9

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure

Y. L. Ko,J. J. Chen,J. J. Cheng,P. Kuan,W. P. Lien,T. K. Tang…

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Year:

1996

Language:

english

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PDF, 92 KB

english, 1996

10

Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR

H. Maruyama,Kawakami,S. Nakamura

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Year:

1996

Language:

english

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PDF, 69 KB

english, 1996

11

SRY-negative true hermaphrodites and an XX male in two generations of the same family

Ester S. Ramos,Carlos A. Moreira-Filho,Yvone A. M. V. A. Vicente…

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Year:

1996

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english

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PDF, 681 KB

english, 1996

12

Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters

Anna Savoia,Adriana Zatteral,Domenico Del Principe,Hans Joenje

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Year:

1996

Language:

english

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PDF, 40 KB

english, 1996

13

Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments

I. A. Glass,M. Passage,L. Bernatowicz,E. C. Salido,T. Mohandas…

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Year:

1996

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english

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PDF, 203 KB

english, 1996

14

A novel polymorphism in the coding region of CYBB, the human gp91-phoxgene

Futoshi Kuribayashi,Martin de Boer,Jeanette H. W. Leusen…

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Year:

1996

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english

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PDF, 48 KB

english, 1996

15

Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia

Jeanette Erdmann,Daphne Shimron-Abarbanell,Marcella Rietschel…

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Year:

1996

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english

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PDF, 187 KB

english, 1996

16

The human lanosterol synthase gene maps to chromosome 21q22.3

Michele Young,Haiming Chen,Maria D. Lalioti,Stylianos E. Antonarakis

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1996

Language:

english

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PDF, 183 KB

english, 1996

17

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

Lucia Rosaria De Vitis,Andrea Tedde,Francesca Vitelli,Franco Ammannati…

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Year:

1996

Language:

english

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PDF, 64 KB

english, 1996

18

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

Lucia Rosaria De Vitis,Andrea Tedde,Francesca Vitelli,Franco Ammannati…

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Year:

1996

Language:

english

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PDF, 37 KB

english, 1996

19

Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Benjamin B. Roa,Frank Greenberg,Preethi Gunaratne,Lisa G. Shaffer…

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Year:

1996

Language:

english

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PDF, 3.73 MB

english, 1996

20

Distribution of mosaicism in human placentae

Karen G. Henderson,Tracey E. Shaw,Irene J. Barrett…

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Year:

1996

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english

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PDF, 83 KB

english, 1996

21

Human chromosome 1 localization of the gene for a prostaglandin F2α, receptor negative regulatory protein

David O. Orlicky,Rebecca Berry,James M. Sikela

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Year:

1996

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english

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PDF, 114 KB

english, 1996

22

Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations

Olivier Cohen,Christine Cans,Jean Louis Gilardi,Hubert Roth…

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Year:

1996

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english

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PDF, 322 KB

english, 1996

23

An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine

D. Marez,M. Legrand,N. Sabbagh,J. M. Lo-Guidice,P Boone,F. Broly

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Year:

1996

Language:

english

File:

PDF, 98 KB

english, 1996

24

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families

Agnès Lezin,Jenny Martial,Géraldine Cancel,Giovanni Stevanin…

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Year:

1996

Language:

english

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PDF, 73 KB

english, 1996

25

Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men

Jari H. Stengård,Juha Pekkanen,Christian Ehnholm,Aulikki Nissinen…

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Year:

1996

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english

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PDF, 82 KB

english, 1996

26

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

Ruth Navon,Beth Seifried,Nitza Shoham Gal-On,Menachem Sadeh

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Year:

1996

Language:

english

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PDF, 44 KB

english, 1996

27

A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene

A. Braun,E. Maier,S. Kammerer,A. A. Roscher,B. Müller

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Year:

1996

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english

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PDF, 23 KB

english, 1996

28

Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32

Louise Warnich,Peter N. Meissner,Richard J. Hift,Jan H. Louw…

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Year:

1996

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english

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PDF, 27 KB

english, 1996

29

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

Takeshi Yamada,Takuro Kobayashi

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Year:

1996

Language:

english

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PDF, 100 KB

english, 1996

30

New allele variants of the immunoglobulin switch (Sα) regions

Genoveva Keyeux,J. E. Bernal

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Year:

1996

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english

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PDF, 33 KB

english, 1996

31

A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene

Christoph G. O. Baerwald,Gabriel S. Panayi,Jerry S. Lanchbury

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Year:

1996

Language:

english

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PDF, 267 KB

english, 1996

32

Erratum

B. S. Gathof,M. Sommer,T. Podskarbi,J. Reichardt,A. Braun,U. Gresser…

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1996

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PDF, 24 KB

1996

33

Canavan Foundation Postdoctoral Fellowship

Journal:

Year:

1996

Language:

english

File:

PDF, 147 KB

english, 1996

34

Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Roa, Benjamin B., Greenberg, Frank, Gunaratne, Preethi, Sauer, Christine M., Lubinsky, Mark S., Kozma, Chahira, Meck, Jeanne M., Magenis, R. Ellen, Shaffer, Lisa G., Lupski, J. R.

Journal:

Year:

1996

Language:

english

File:

PDF, 394 KB

english, 1996

35

A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene

Baerwald, Christoph G. O., Panayi, Gabriel S., Lanchbury, J. S.

Journal:

Year:

1996

Language:

english

File:

PDF, 66 KB

english, 1996