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Volume 11; Issue 3

European Journal of Human Genetics

Volume 11; Issue 3

1

Reduced folate carrier polymorphism (80A→G) and neural tube defects

De Marco, Patrizia, Calevo, Maria Grazia, Moroni, Anna, Merello, Elisa, Raso, Alessandro, Finnell, Richard H., Zhu, Huiping, Andreussi, Luciano, Cama, Armando, Capra, Valeria

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 105 KB

english, 2003

2

Finnish and Swedish genotypes and risk of cancer in Sweden

Hemminki, Kari, Li, Xinjun

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 55 KB

english, 2003

3

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes

Cortesi, Laura, Turchetti, Daniela, Bertoni, Chiara, Zanocco-Marani, Tommaso, Vinceti, Marco, Silvestri, Chiara, Federico, Massimo, Silingardi, Vittorio, Ferrari, Sergio

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 79 KB

english, 2003

4

Mitochondrial DNA analysis reveals diverse histories of tribal populations from India

Cordaux, Richard, Saha, Nilmani, Bentley, Gillian R, Aunger, Robert, Sirajuddin, S M, Stoneking, Mark

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 281 KB

english, 2003

5

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

Melkoniemi, Miia, Koillinen, Hannele, Männikkö, Minna, Warman, Matthew L, Pihlajamaa, Tero, Kääriäinen, Helena, Rautio, Jorma, Hukki, Jyri, Stofko, Joseph A, Cisneros, George J

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 91 KB

english, 2003

6

Microsatellite marker association at chromosome region 2p13 in Finnish patients with preeclampsia and obstetric cholestasis suggests a common risk locus

Laasanen, Jaana, Hiltunen, Mikko, Romppanen, Eeva-Liisa, Punnonen, Kari, Mannermaa, Arto, Heinonen, Seppo

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 83 KB

english, 2003

7

Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program

Wu, Xiaodong, Cooper, Richard S, Boerwinkle, Eric, Turner, Stephen T, Hunt, Steve, Myers, Richard, Olshen, Richard A, Curb, David, Zhu, Xiaofeng, Kan, Donghui

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 75 KB

english, 2003

8

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

Hu, Xiaofeng, Plomp, Astrid, Wijnholds, Jan, ten Brink, Jacoline, van Soest, Simone, van den Born, L Ingeborgh, Leys, Anita, Peek, Ron, de Jong, Paulus T V M, Bergen, Arthur A B

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 160 KB

english, 2003

9

Association of NOD2 with Crohn's Disease in a homogenous Irish population

Bairead, Emer, Harmon, Dawn L, Curtis, Anne M, Kelly, Yvette, O'Leary, Clare, Gardner, Michelle, Leahy, Dermot T, Vaughan, Pat, Keegan, Denise, O'Morain, Colm

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 116 KB

english, 2003

10

A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism

Njajou, Omer T, Houwing-Duistermaat, Jeanine J, Osborne, Richard H, Vaessen, Norbert, Vergeer, Jeanette, Heeringa, Jan, Pols, Huibert AP, Hofman, Albert, van Duijn, Cornelia M

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 95 KB

english, 2003

11

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1

Ogino, Shuji, Gao, Sizhen, Leonard, Debra G B, Paessler, Michele, Wilson, Robert B

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 69 KB

english, 2003