Volume 100; Issue 2

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Human Genetics
Volume 100; Issue 2

Human Genetics

Volume 100; Issue 2

1

Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca2+channels to chromosomes 10p12 and 2q22-q23

S. Taviaux, M. E. Williams, M. M. Harpold, J. Nargeot, P. Lory

Journal:

Year:

1997

Language:

english

File:

PDF, 90 KB

english, 1997

2

Towards a unified nomenclature describing voltage-gated calcium channel genes

Philippe Lory, Roel A. Ophoff, Joseph Nahmias

Journal:

Year:

1997

Language:

english

File:

PDF, 11 KB

english, 1997

3

Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan

Mingli Hsieh, Hui-Fang Tsai, Tsong-Ming Lu, Chien-Ying Yang, Hung-Ming Wu, S.-Y. Li

Journal:

Year:

1997

Language:

english

File:

PDF, 123 KB

english, 1997

4

Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance

M. Odawara, Ayako Matsunuma, Kamejiro Yamashita

Journal:

Year:

1997

Language:

english

File:

PDF, 49 KB

english, 1997

5

A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes

M. R. Wilson, Deborah Polanskey, Jeri Replogle, Joseph A. DiZinno, Bruce Budowle

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Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

6

Cytogenetic rearrangements involving the loss of theSonic Hedgehoggene at 7q36 cause holoprosencephaly

Erich Roessler, Deeann E. Ward, Karin Gaudenz, Elena Belloni, Steven W. Scherer, Dian Donnai, Jacqueline Siegel-Bartelt, Lap-Chee Tsui, M. Muenke

Journal:

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

7

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse (Peromyscus maniculatus)

B. F. McAllister, I. F. Greenbaum

Journal:

Year:

1997

Language:

english

File:

PDF, 72 KB

english, 1997

8

Phenylketonuria and the peoples of Northern Ireland

J. Zschocke, J. P. Mallory, Hans G. Eiken, Norman C. Nevin

Journal:

Year:

1997

Language:

english

File:

PDF, 96 KB

english, 1997

9

A novelde novomutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Patrick Booms, Anne P. Withers, Maureen Boxer, Ursula C. Kaufmann, Christian Hagemeier, Ulrich Vetter, P. N. Robinson

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

10

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden

A. Sillén, Sten Jagell, Claes Wadelius

Journal:

Year:

1997

Language:

english

File:

PDF, 36 KB

english, 1997

11

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus

M. Clementi, Romano Tenconi, Paola Forabosco, Elisa Calzolari, Mario Milan

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Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

12

Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese

Y.-L. Ko, S.-M. Wang, Y.-S. Ko, Po-Hsien Chu, Ming-Sheng Teng, Nye-Jan Cheng, Wei-Jan Chen, Tsu-Shiu Hsu, Chi-Tai Kuo, Chen-Wen Chiang, Ying-Shiung Lee

Journal:

Year:

1997

Language:

english

File:

PDF, 35 KB

english, 1997

13

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

Christiane Wüchner, Katja Hilbert, Bernhard Zabel, A. Winterpacht

Journal:

Year:

1997

Language:

english

File:

PDF, 44 KB

english, 1997

14

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

M. Hergersberg, Jaya Balakrishnan, Thomas Bettecken, Francoise Chevalier-Porst, Christian Brägger, René Burger, Inge Einschenk, Sabina Liechti-Gallati, Michael Morris, Daniel Schorderet, Francine Thon

Journal:

Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

15

Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients

S. M. Klauck, Ewald Münstermann, Bettina Bieber-Martig, Dorothea Rühl, Sonja Lisch, Gabriele Schmötzer, Annemarie Poustka, Fritz Poustka

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

16

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

H. Scheffer, Rein P. Stulp, Edwin Verlind, M. van der Meulen, Leena Bruckner-Tuderman, Tobias Gedde-Dahl Jr., G. J. te Meerman, Arnoud Sonnenberg, Charles H. C. M. Buys, Marcel F. Jonkman

Journal:

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

17

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

E. Rao, B. Weiss, M. Fukami, A. Mertz, J. Meder, T. Ogata, U. Heinrich, J. Garcia-Heras, K. Schiebel, G. A. Rappold

Journal:

Year:

1997

Language:

english

File:

PDF, 67 KB

english, 1997

18

Evidence for balancing of KM, but not GM, alleles by heterotic advantage in South Amerinds

F. L. Black, Janardan P. Pandey

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Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

19

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease

D. Helley, Claude Besmond, Rolande Ducrocq, F. da Silva, Marie-Claude Guillin, Annie Bezeaud, Jacques Elion

Journal:

Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

20

Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene

Mara Giordano, Cristina Marchetti, Elena Chiorboli, Gianni Bona, P. Momigliano Richiardi

Journal:

Year:

1997

Language:

english

File:

PDF, 65 KB

english, 1997

21

Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

D. J. Wolff, Karen M. Gustashaw, Vickie Zurcher, Lara Ko, Wendy White, Lester Weiss, Daniel L. Van Dyke, Stuart Schwartz, Huntington F. Willard

Journal:

Year:

1997

Language:

english

File:

PDF, 140 KB

english, 1997

22

Identification of a four-base deletion (delTCAT296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression

P. Vreken, R. Meinsma, R. A. De Abreu, A. H. Van Gennip, A. B. P. Van Kuilenburg

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

23

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

A. V. Peeters, Luc F. Van Gaal, L. du Plessis, M. Paola R. Lombardi, Louis M. Havekes, Maritha J. Kotze

Journal:

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

24

Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization

S. Müller, M. Rocchi, M. A. Ferguson-Smith, J. Wienberg

Journal:

Year:

1997

Language:

english

File:

PDF, 334 KB

english, 1997

25

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

Marie Desgeorges, André Mégarbané, Caroline Guittard, Soukeyna Carles, Jacques Loiselet, Jacques Demaille, M. Claustres

Journal:

Year:

1997

Language:

english

File:

PDF, 29 KB

english, 1997

26

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

A. Verrips, Gerry C. H. Steenbergen-Spanjers, J. A. F. M. Luyten, R. A. Wevers, John H. J. Wokke, Fons J. M. Gabreëls, Bert G. Wolthers, Lambert P. W. J. van den Heuvel

Journal:

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

27

Evidence of a third locus in X-linked recessive spastic paraplegia

R. Steinmüller, A. Lantigua-Cruz, R. Garcia-Garcia, M. Kostrzewa, D. Steinberger, U. Müller

Journal:

Year:

1997

Language:

english

File:

PDF, 38 KB

english, 1997

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