Volume 116; Issue 6

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Human Genetics
Volume 116; Issue 6

Human Genetics

Volume 116; Issue 6

1

BRCA1 variants in a family study of African-American and Latina women

Roberta McKean-Cowdin, Heather Spencer Feigelson, Lucy Y. Xia, Celeste Leigh Pearce, Duncan C. Thomas, Daniel O. Stram, Brian E. Henderson

Journal:

Year:

2005

Language:

english

File:

PDF, 291 KB

english, 2005

2

A neutral variant involved in a complexCFTRallele contributes to a severe cystic fibrosis phenotype

Jérôme Clain, Jacqueline Lehmann-Che, Emmanuelle Girodon, Joanna Lipecka, Aleksander Edelman, Michel Goossens, Pascale Fanen

Journal:

Year:

2005

Language:

english

File:

PDF, 315 KB

english, 2005

3

Homeodomain revisited: a lesson from disease-causing mutations

Journal:

Year:

2005

Language:

english

File:

PDF, 503 KB

english, 2005

4

Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study

Brent C. Taylor, Pamela J. Schreiner, Terence M. Doherty, Myriam Fornage, J. Jeffrey Carr, Steve Sidney

Journal:

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

5

Expression of mutantJAGGED1alleles in patients with Alagille syndrome

Julie Boyer, Cécile Crosnier, Catherine Driancourt, Nicole Raynaud, Marie Gonzales, Michelle Hadchouel, Michèle Meunier-Rotival

Journal:

Year:

2005

Language:

english

File:

PDF, 442 KB

english, 2005

6

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

Hildegard Kehrer-Sawatzki, Lan Kluwe, Carsten Fünsterer, Victor-Felix Mautner

Journal:

Year:

2005

Language:

english

File:

PDF, 1.30 MB

english, 2005

7

FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5

Idoya Lahortiga, Iria Vázquez, Elena Belloni, José P. Román, Patrizia Gasparini, Francisco J. Novo, Isabel Zudaire, Pier G. Pelicci, Jesús M. Hernández, María J. Calasanz, María D. Odero

Journal:

Year:

2005

Language:

english

File:

PDF, 597 KB

english, 2005

8

Rapid genotyping for most commonTGFBImutations with real-time polymerase chain reaction

Shigeo Yoshida, Yoko Yamaji, Ayako Yoshida, Yoshihiro Noda, Yuji Kumano, Tatsuro Ishibashi

Journal:

Year:

2005

Language:

english

File:

PDF, 291 KB

english, 2005

9

Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations

Kumarasamy Thangaraj, Vempati Sridhar, Toomas Kivisild, Alla G. Reddy, Gyaneshwer Chaubey, Vijay Kumar Singh, Suminder Kaur, Pooja Agarawal, Amit Rai, Jalaj Gupta, Chandana Basu Mallick, Niraj Kumar,

Journal:

Year:

2005

Language:

english

File:

PDF, 561 KB

english, 2005

10

Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer

Alexander A. Westphalen, Anna M. Russell, Mauro Buser, Claudine Rey Berthod, Pierre Hutter, Martina Plasilova, Hansjakob Mueller, Karl Heinimann

Journal:

Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

11

Microarray analysis of theDf1mouse model of the 22q11 deletion syndrome

Katrina Prescott, Sarah Ivins, Mike Hubank, Elizabeth Lindsay, Antonio Baldini, Peter Scambler

Journal:

Year:

2005

Language:

english

File:

PDF, 289 KB

english, 2005

12

On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004)

Lev A. Zhivotovsky, Peter A. Underhill

Journal:

Year:

2005

Language:

english

File:

PDF, 190 KB

english, 2005

13

Human Gene Mutations

Journal:

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005