Volume 18; Issue 3

European Journal of Human Genetics

Volume 18; Issue 3

1

Triple X syndrome: a review of the literature

Otter, Maarten, Schrander-Stumpel, Constance TRM, Curfs, Leopold MG

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

2

Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis

Yu, Ke, Zhang, Jing, Zhang, Jiyuan, Dou, Chao, Gu, Shaohua, Xie, Yi, Mao, Yumin, Smith, Moyra

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 293 KB

english, 2009

3

Research and applied medical genetics: filling the gap

Kehrer-Sawatzki, Hildegard

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

4

‘Me, Myself, and Why. Understanding your own genome and evolutionary history’

de Knijff, Peter

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 66 KB

english, 2010

5

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

Mascalzoni, Deborah, Janssens, A Cecile JW, Stewart, Alison, Pramstaller, Peter, Gyllensten, Ulf, Rudan, Igor, van Duijn, Cornelia M, Wilson, James F, Campbell, Harry, Quillan, Ruth Mc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 297 KB

english, 2009

6

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

Dastani, Zari, Pajukanta, Päivi, Marcil, Michel, Rudzicz, Nicholas, Ruel, Isabelle, Bailey, Swneke D, Lee, Jenny C, Lemire, Mathieu, Faith, Janet, Platko, Jill

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 366 KB

english, 2009

7

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 395 KB

english, 2009

8

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 400 KB

english, 2009

9

The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations

Chiaroni, Jacques, King, Roy J, Myres, Natalie M, Henn, Brenna M, Ducourneau, Axel, Mitchell, Michael J, Boetsch, Gilles, Sheikha, Issa, Lin, Alice A, Nik-Ahd, Mahnoosh

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 533 KB

english, 2009

10

A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits

Belonogova, Nadezhda M, Axenovich, Tatiana I, Aulchenko, Yurii S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 370 KB

english, 2009

11

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations

Eaaswarkhanth, Muthukrishnan, Haque, Ikramul, Ravesh, Zeinab, Romero, Irene Gallego, Meganathan, Poorlin Ramakodi, Dubey, Bhawna, Khan, Faizan Ahmed, Chaubey, Gyaneshwer, Kivisild, Toomas, Tyler-Smith

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 700 KB

english, 2009

12

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

13

Understanding sickle cell carrier status identified through newborn screening: a qualitative study

Miller, Fiona A, Paynter, Martha, Hayeems, Robin Z, Little, Julian, Carroll, June C, Wilson, Brenda J, Allanson, Judith, Bytautas, Jessica P, Chakraborty, Pranesh

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 253 KB

english, 2009

14

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 601 KB

english, 2009

15

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 433 KB

english, 2009

16

Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population)

Garaulet, Marta, Lee, Yu-Chi, Shen, Jian, Parnell, Laurence D, Arnett, Donna K, Tsai, Michael Y, Lai, Chao-Qiang, Ordovas, Jose M

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 297 KB

english, 2009

17

Large-scale parent–child comparison confirms a strong paternal influence on telomere length

Nordfjäll, Katarina, Svenson, Ulrika, Norrback, Karl-Fredrik, Adolfsson, Rolf, Roos, Göran

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 424 KB

english, 2009

18

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Plaitakis, Andreas, Latsoudis, Helen, Kanavouras, Konstantinos, Ritz, Beate, Bronstein, Jeff M, Skoula, Irene, Mastorodemos, Vasileios, Papapetropoulos, Spyridon, Borompokas, Nikolas, Zaganas, Ioannis

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 296 KB

english, 2009

19

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

Bonnen, Penelope E, Lowe, Jennifer K, Altshuler, David M, Breslow, Jan L, Stoffel, Markus, Friedman, Jeffrey M, Pe'er, Itsik

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 577 KB

english, 2009

20

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 548 KB

english, 2009

21

Non-invasive prenatal testing: ethical issues explored

de Jong, Antina, Dondorp, Wybo J, de Die-Smulders, Christine E M, Frints, Suzanne G M, de Wert, Guido M W R

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

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