Volume 101; Issue 3

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Human Genetics
Volume 101; Issue 3

Human Genetics

Volume 101; Issue 3

1

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

E. Schröck, T. Veldman, Hesed Padilla-Nash, Y. Ning, Jack Spurbeck, Syed Jalal, Lisa G. Shaffer, Peter Papenhausen, Chahira Kozma, Mary C. Phelan, Eigil Kjeldsen, Stephen A. Schonberg, Patricia O’Brie

Journal:

Year:

1997

Language:

english

File:

PDF, 330 KB

english, 1997

2

Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids

Caroline Graff, Anna Eriksson, Kristina Forsman, Ola Sandgren, Gösta Holmgren, Claes Wadelius

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

3

Phenotype-genotype correlation in haemochromatosis subjects

C. Mura, Jean-Baptiste Nousbaum, Paul Verger, Marie-Thèrèse Moalic, Odile Raguenes, Anne-Yvonne Mercier, Claude Ferec

Journal:

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

4

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25

Joan E. Pellegrino, Roberta A. V. George, Jacquelyn Biegel, Martin R. Farlow, Kathy Gardner, Judy Caress, Mark J. Brown, Timothy R. Rebbeck, Thomas D. Bird, P. F. Chance

Journal:

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

5

The human histone gene cluster at the D6S105 locus

Werner Albig, D. Doenecke

Journal:

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

6

Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis

K. Broberg, Janusz Limon, E. Pålsson, Anders Lindstrand, Sören Toksvig-Larsen, Nils Mandahl, Fredrik Mertens

Journal:

Year:

1997

Language:

english

File:

PDF, 24 KB

english, 1997

7

Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer’s disease

L. Migliore, Anna Testa, Roberto Scarpato, Nicola Pavese, Lucia Petrozzi, Ubaldo Bonuccelli

Journal:

Year:

1997

Language:

english

File:

PDF, 69 KB

english, 1997

8

TRP64ARG β3-adrenergic receptor and obesity in Mexican Americans

K. Silver, Braxton D. Mitchell, Jeremy Walston, J. D. Sorkin, Michael P. Stern, Jesse Roth, A. R. Shuldiner

Journal:

Year:

1997

Language:

english

File:

PDF, 61 KB

english, 1997

9

Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2phase chromosomal radiosensitivity of peripheral blood lymphocytes

A. Tchirkov, Jacques-Olivier Bay, David Pernin, Yves-Jean Bignon, Pascale Rio, Maria Grancho, Fabrice Kwiatkowski, Michel Giollant, Paul Malet, Pierre Verrelle

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Year:

1997

Language:

english

File:

PDF, 32 KB

english, 1997

10

Mapping the multiple self-healing squamous epithelioma(MSSE)gene and investigation of xeroderma pigmentosum group A(XPA)andPATCHED (PTCH)as candidate genes

F. M. Richards, David R. Goudie, Wendy N. Cooper, Quitz Jene, Inês Barroso, Carol Wicking, Brandon J. Wainwright, M. A. Ferguson-Smith

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

11

Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

R. Schwaab, J. Oldenburg, M. R. A. Lalloz, U. Schwaab, S. Pemberton, P. Hanfland, H.-H. Brackmann, E. G. D. Tuddenham, K. Michaelides

Journal:

Year:

1997

Language:

english

File:

PDF, 291 KB

english, 1997

12

Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W

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

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Year:

1997

Language:

english

File:

PDF, 60 KB

english, 1997

13

Double trisomy in spontaneous abortions

Journal:

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

14

Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA

Juan-José Fuentes, Carles Pucharcós, Melanie Pritchard, X. Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 77 KB

english, 1997

15

A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes

Timothy M. Frayling, Michael P. Bulman, Maggie Appleton, A. T. Hattersley, Sian Ellard

Journal:

Year:

1997

Language:

english

File:

PDF, 36 KB

english, 1997

16

Incidence of the mucopolysaccharidoses in Northern Ireland

Journal:

Year:

1997

Language:

english

File:

PDF, 30 KB

english, 1997

17

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome andCDKN2Ain a melanoma family with a mutation in theCDKN2A(P16INK4A) gene

S. Puig, Anna Ruiz, Teresa Castel, Victor Volpini, Josep Malvehy, Francesc Cardellach, Michael Lynch, Jose M. Mascaro, Xavier Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 69 KB

english, 1997

18

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

Teresa Casals, Maria D. Ramos, Javier Giménez, Sara Larriba, Virginia Nunes, X. Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 57 KB

english, 1997

19

Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus

Kamiab Tavassoli, Wolfgang Rüger, Jürgen Horst

Journal:

Year:

1997

Language:

english

File:

PDF, 121 KB

english, 1997

20

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14–q21 by homozygosity mapping

Martin Walter Laass, Hans Christian Hennies, Sabine Preis, Howard P. Stevens, Martin Jung, Irene M. Leigh, Thomas F. Wienker, André Reis

Journal:

Year:

1997

Language:

english

File:

PDF, 98 KB

english, 1997

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