Volume 111; Issue 6

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Human Genetics
Volume 111; Issue 6

Human Genetics

Volume 111; Issue 6

1

Evidence against the long-term persistence of fetal DNA in maternal plasma after pregnancy

Chanda N. Johnson-Hopson, Carol M. Artlett

Journal:

Year:

2002

Language:

english

File:

PDF, 124 KB

english, 2002

2

Presence of fetal DNA in maternal plasma decades after pregnancy: further comments

Pietro Invernizzi, Pier Battezzati, Mauro Podda, Giuseppe Simoni

Journal:

Year:

2002

Language:

english

File:

PDF, 103 KB

english, 2002

3

Population variation in linkage disequilibrium across theCOMTgene considering promoter region and coding region variation

Mellissa M. DeMille, Judith R. Kidd, Valeria Ruggeri, Meg A. Palmatier, David Goldman, Adekunle Odunsi, Friday Okonofua, Elena Grigorenko, Leslie O. Schulz, Batsheva Bonne-Tamir, Ru-Band Lu, Josef Par

Journal:

Year:

2002

Language:

english

File:

PDF, 494 KB

english, 2002

4

Intronic mutations outside ofAlu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

Sabine Amsellem, Dorothée Briffaut, Alain Carrié, Jean Rabès, Jean Girardet, Alexandre Fredenrich, Philippe Moulin, Michel Krempf, Yves Reznik, Bernard Vialettes, Jean de Gennes, Eric Brukert, Pascale

Journal:

Year:

2002

Language:

english

File:

PDF, 238 KB

english, 2002

5

Markers that discriminate between European and African ancestry show limited variation within Africa

Heather E. Collins-Schramm, Rick A. Kittles, Darwin J. Operario, James L. Weber, Lindsey A. Criswell, Richard S. Cooper, Michael F. Seldin

Journal:

Year:

2002

Language:

english

File:

PDF, 246 KB

english, 2002

6

Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error?

Jianfeng Xu, Aubrey Turner, Joy Little, Eugene R. Bleecker, Deborah A. Meyers

Journal:

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

7

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

L. van den Heuvel, K. Assink, M. Willemsen, L. Monnens

Journal:

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

8

Nonsense-mediated RNA decay in theTSC1gene suggests a useful tool pre- and post-positional cloning

Dharini Jeganathan, Margaret F. Fox, Janet M. Young, John R. Yates, John P. Osborne, Sue Povey

Journal:

Year:

2002

Language:

english

File:

PDF, 529 KB

english, 2002

9

A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes

Xiayi Ke, Simon N. Thomas, David O. Robinson, Andrew Collins

Journal:

Year:

2002

Language:

english

File:

PDF, 2.71 MB

english, 2002

10

Jan Klein, Naoyuki Takahata: Where do we come from? The molecular evidence for human descent

Journal:

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

11

Hereditary haemochromatosis: only 1% of adultHFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

Anne C. McCune, Layla N. Al-Jader, Alison May, Sara L. Hayes, Helen A. Jackson, Mark Worwood

Journal:

Year:

2002

Language:

english

File:

PDF, 191 KB

english, 2002

12

Association found between the promoter region polymorphism in the apolipoprotein

Kazue Endo, Hisako Yanagi, Jungo Araki, Chiaki Hirano, Kimiko Yamakawa-Kobayashi, Shigeo Tomura

Journal:

Year:

2002

Language:

english

File:

PDF, 134 KB

english, 2002

13

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

Shuji Ogino, Robert B. Wilson

Journal:

Year:

2002

Language:

english

File:

PDF, 305 KB

english, 2002

14

Unusual deep intronic mutations in theCOL4A5gene cause X linked Alport syndrome

Kathy King, Frances A. Flinter, Vandana Nihalani, Peter M. Green

Journal:

Year:

2002

Language:

english

File:

PDF, 814 KB

english, 2002

15

Bioinformatics – from genomes to drugs (2 volumes)

Journal:

Year:

2002

Language:

english

File:

PDF, 86 KB

english, 2002

16

Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample

Stephanie M. Fullerton, Andrew G. Clark, Kenneth M. Weiss, Scott L. Taylor, Jari H. Stengård, Veikko Salomaa, Eric Boerwinkle, Deborah A. Nickerson

Journal:

Year:

2002

Language:

english

File:

PDF, 115 KB

english, 2002

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