Volume 109; Issue 3

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Human Genetics
Volume 109; Issue 3

Human Genetics

Volume 109; Issue 3

1

Genetics and public health in the 21stcentury

Journal:

Year:

2001

Language:

english

File:

PDF, 21 KB

english, 2001

2

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

M. Rosenberg, C. Killoran, L. Dziadzio, S. Chang, D. Stone, J. Meck, D. Aughton, L. Bird, J. Bodurtha, S. Cassidy, J. Graham, A. Grix, A. Guttmacher, L. Hudgins, C. Kozma, R.C. Michaelis, R. Pauli, K.

Journal:

Year:

2001

Language:

english

File:

PDF, 331 KB

english, 2001

3

Association between nasal allergy and a coding variant of theFcεRIβgene Glu237Gly in a Japanese population

H. Nagata, H. Mutoh, K. Kumahara, Y. Arimoto, T. Tomemori, D. Sakurai, K. Arase, K. Ohno, T. Yamakoshi, K. Nakano, T. Okawa, T. Numata, A. Konno

Journal:

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

4

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Mark I. Rees, Trevor M. Lewis, Behnaz Vafa, Colin Ferrie, Peter Corry, Fransesco Muntoni, Heinz Jungbluth, John B. Stephenson, Mike Kerr, Russell G. Snell, Peter R. Schofield, Michael J. Owen

Journal:

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

5

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

Renate Kirschner, Deniz Erturk, Christina Zeitz, Selen Sahin, Juliane Ramser, Frans P. Cremers, H.-Hilger Ropers, Wolfgang Berger

Journal:

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

6

Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test

Ritva Haataja, Riitta Marttila, Pekka Uimari, Johan Löfgren, Mika Rämet, Mikko Hallman

Journal:

Year:

2001

Language:

english

File:

PDF, 41 KB

english, 2001

7

Polymorphism in the alpha1-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations

Kevin Morgan, Federico Licastro, Louise Tilley, Alistair Ritchie, Linda Morgan, Steve Pedrini, Noor Kalsheker

Journal:

Year:

2001

Language:

english

File:

PDF, 188 KB

english, 2001

8

Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk

Rick A. Kittles, Dale Young, Sally Weinrich, Julie Hudson, George Argyropoulos, Flora Ukoli, Lucile Adams-Campbell, Georgia M. Dunston

Journal:

Year:

2001

Language:

english

File:

PDF, 274 KB

english, 2001

9

Genomic structures and population histories of linguistically distinct tribal groups of India

Susanta Roychoudhury, Sangita Roy, Analabha Basu, Rajat Banerjee, H. Vishwanathan, M. Usha Rani, Samir K. Sil, Mitashree Mitra, Partha P. Majumder

Journal:

Year:

2001

Language:

english

File:

PDF, 210 KB

english, 2001

10

Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation

Andrew Sharp, David O. Robinson, Patricia Jacobs

Journal:

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

11

Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations

Jian-Min Chen, Tristan Montier, Claude Férec

Journal:

Year:

2001

Language:

english

File:

PDF, 106 KB

english, 2001

12

Linkage of body mass index to chromosome 20 in Utah pedigrees

Steven C. Hunt, Victor Abkevich, Charles H. Hensel, Alexander Gutin, Chris D. Neff, Deanna L. Russell, Thanh Tran, Xiankang Hong, Srikanth Jammulapati, Robyn Riley, Jane Weaver-Feldhaus, Tess Macalma,

Journal:

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

13

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

Leena Pulkkinen, Aoi Nakano, Franziska Ringpfeil, Jouni Uitto

Journal:

Year:

2001

Language:

english

File:

PDF, 299 KB

english, 2001

14

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

Antonella Fumagalli, Maurizio Ferrari, Nadia Soriani, Alessandra Gessi, Barbara Foglieni, Elisabetta Martina, Maria Manitto, Rosario Brancato, Michael Dean, Rando Allikmets, Laura Cremonesi

Journal:

Year:

2001

Language:

english

File:

PDF, 149 KB

english, 2001

15

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

Mariluce Riegel, Alessandra Baumer, Mauricette Jamar, Kathy Delbecque, Christian Herens, Alain Verloes, Albert Schinzel

Journal:

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

16

Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders

Björn Schröder, Bettina Franz, Petra Hempfling, Martin Selbert, Thomas Jürgens, Hans A. Kretzschmar, Monika Bodemer, Sigrid Poser, Inga Zerr

Journal:

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001