Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 12

Results: 24

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1527, doi. 10.1038/ejhg.2009.93

By:

Tümer, Zeynep;
Bach-Holm, Daniella

Publication type:

Article

On the origin of Y-chromosome haplogroup N1b.

Published in:

2009

By:

Malyarchuk, Boris;
Derenko, Miroslava

Publication type:

Letter

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1683, doi. 10.1038/ejhg.2009.73

By:

Taulan, Magali;
Guittard, Caroline;
Theze, Corinne;
Claustres, Mireille;
des Georges, Marie

Publication type:

Article

Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1668, doi. 10.1038/ejhg.2009.86

By:

Wensen Chen;
Sumin Wang;
Tian Tian;
Jianling Bai;
Zhibin Hu;
Yan Xu;
Jing Dong;
Feng Chen;
Xinru Wang;
Hongbing Shen

Publication type:

Article

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1625, doi. 10.1038/ejhg.2009.77

By:

Bliek, Jet;
Alders, Marielle;
Maas, Saskia M.;
Oostra, Roelof-Jan;
Mackay, Deborah M;
van der Lip, Karin;
Callaway, Johnatan L.;
Brooks, Alice;
van 't Padje, Sandra;
Westerveld, Andries;
Leschot, Nico J.;
Mannens, Marcel M. A. M.

Publication type:

Article

Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins.

Published in:

2009

By:

Mirabal, Sheyla;
Underhill, Peter A.;
Herrera, Rene J.

Publication type:

Letter

Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1658, doi. 10.1038/ejhg.2009.102

By:

Lei Gao;
Nieters, Alexandra;
Brenner, Hermann

Publication type:

Article

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104

By:

Seifert, Wenke;
Beninde, Julia;
Hoffmann, Katrin;
Lindner, Tom H.;
Bassir, Christian;
Aksu, Fuat;
Hübner, Christoph;
Verbeek, Nienke E.;
Mundlos, Stefan;
Horn, Denise

Publication type:

Article

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Published in:

2009

By:

Van Dijk, Fleur S.;
Nesbitt, Isabel M.;
Nikkels, Peter G. J.;
Dalton, Ann;
Bongers, Ernie M. H. F.;
van de Kamp, Jiddeke M.;
Hilhorst-Hofstee, Yvonne;
Den Hollander, Nicolette S.;
Lachmeijer, Augusta M. A.;
Marcelis, Carlo L.;
Tan-Sindhunata, Gita M. B.;
van Rijn, Rick R.;
Meijers-Heijboer, Hanne;
Cobben, Jan M.;
Pals, Gerard

Publication type:

Correction Notice

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Published in:

2009

By:

Gazzerro, Elisabetta;
Sotgia, Federica;
Bruno, Claudio;
Lisanti, Michael P.;
Minetti, Carlo

Publication type:

Correction Notice

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1615, doi. 10.1038/ejhg.2009.62

By:

Klooster, Rinse;
Straasheijm, Kirsten;
Shah, Bharati;
Sowden, Janet;
Frants, Rune;
Thornton, Charles;
Tawil, Rabi;
van der Maarel, Silvère

Publication type:

Article

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1582, doi. 10.1038/ejhg.2009.68

By:

Kobayashi, Hisato;
Hiura, Hitoshi;
John, Rosalind M;
Sato, Akiko;
Otsu, Eiko;
Kobayashi, Naoko;
Suzuki, Rei;
Suzuki, Fumihiko;
Hayashi, Chika;
Utsunomiya, Takafumi;
Yaegashi, Nobuo;
Arima, Takahiro

Publication type:

Article

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75

By:

Van Dijk, Fleur S.;
Nesbitt, Isabel M.;
Nikkels, Peter G. J.;
Dalton, Ann;
Bongers, Ernie M. H. F.;
van de Kamp, Jiddeke M.;
Hilhorst-Hofstee, Yvonne;
Den Hollander, Nicolette S.;
Lachmeijer, Augusta M. A.;
Marcelis, Carlo L.;
Tan-Sindhunata, Gita M. B.;
van Rijn, Rick R.;
Meijers-Heijboer, Hanne;
Cobben, Jan M.;
Pals, Gerard

Publication type:

Article

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1600, doi. 10.1038/ejhg.2009.81

By:

Nawaz, Sadia;
Klar, Joakim;
Wajid, Muhammad;
Aslam, Muhammad;
Tariq, Muhammad;
Schuster, Jens;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1676, doi. 10.1038/ejhg.2009.85

By:

Fardo, David W.;
Becker, K. David;
Bertram, Lars;
Tanzi, Rudolph E.;
Lange, Christoph

Publication type:

Article

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1544, doi. 10.1038/ejhg.2009.87

By:

Forsberg, Joanna Stjernschantz;
Hansson, Mats G.;
Eriksson, Stefan

Publication type:

Article

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1550, doi. 10.1038/ejhg.2009.88

By:

Bredenoord, Annelien;
Dondorp, Wybo;
Pennings, Guido;
de Die-Smulders, Christine;
Smeets, Bert;
de Wert, Guido

Publication type:

Article

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90

By:

Engels, Hartmut;
Wohlleber, Eva;
Zink, Alexander;
Hoyer, Juliane;
Ludwig, Kerstin U.;
Brockschmidt, Felix F.;
Wieczorek, Dagmar;
Moog, Ute;
Hellmann-Mersch, Birgit;
Weber, Ruthild G.;
Willatt, Lionel;
Kreiß-Nachtsheim, Martina;
Firth, Helen V.;
Rauch, Anita

Publication type:

Article

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1650, doi. 10.1038/ejhg.2009.94

By:

Ehret, Georg B.;
O'Connor, Ashley A.;
Weder, Alan;
Cooper, Richard S.;
Chakravarti, Aravinda

Publication type:

Article

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1577, doi. 10.1038/ejhg.2009.95

By:

Jacob, Francois Dominique;
Ramaswamy, Vijay;
Andersen, John;
Bolduc, Francois V.

Publication type:

Article

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1642, doi. 10.1038/ejhg.2009.96

By:

Hersmus, Remko;
de Leeuw, Bertie H. C. G. M.;
Stoop, Hans;
Bernard, Pascal;
van Doorn, Helena C.;
Brüggenwirth, Hennie T.;
Drop, Stenvert L. S.;
Oosterhuis, J. Wolter;
Harley, Vincent R.;
Looijenga, Leendert H. J.

Publication type:

Article

Comparing population structure as inferred from genealogical versus genetic information.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1635, doi. 10.1038/ejhg.2009.97

By:

Colonna, Vincenza;
Nutile, Teresa;
Ferrucci, Ronald R;
Fardella, Giulio;
Aversano, Mario;
Barbujani, Guido;
Ciullo, Marina

Publication type:

Article

Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1688, doi. 10.1038/ejhg.2009.98

By:

Boyarskikh, Uljana A.;
Zarubina, Natalja A.;
Biltueva, Julia A.;
Sinkina, Tatjana V.;
Voronina, Elena N.;
Lazarev, Aleksander F.;
Petrova, Valentina D.;
Aulchenko, Yurii S.;
Filipenko, Maxim L.

Publication type:

Article

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1606, doi. 10.1038/ejhg.2009.99

By:

Hantke, Janina;
Chandler, David;
King, Rosalind;
Wanders, Ronald JA;
Angelicheva, Dora;
Tournev, Ivailo;
McNamara, Elyshia;
Kwa, Marcel;
Guergueltcheva, Velina;
Kaneva, Radka;
Baas, Frank;
Kalaydjieva, Luba

Publication type:

Article