Works matching IS 03406717 AND DT 2006 AND VI 118 AND IP 5

Results: 13

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Published in:

2006

By:

Borg, Katarzyna;
Stankiewicz, Paweł;
Bocian, Ewa;
Kruczek, Anna;
Obersztyn, Ewa;
Lupski, James R.;
Mazurczak, Tadeusz

Publication type:

Correction Notice

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 640, doi. 10.1007/s00439-005-0081-1

By:

Lachlan, K. L.;
Youings, S.;
Costa, T.;
Jacobs, P. A.;
Thomas, N. S.

Publication type:

Article

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33–q27.3.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 665, doi. 10.1007/s00439-005-0086-9

By:

John, Peter;
Ali, Ghazanfar;
Chishti, Muhammad S.;
Naqvi, Syed Muhammad S.;
Leal, Suzanne M.;
Ahmad, Wasim

Publication type:

Article

Population stratification confounds genetic association studies among Latinos.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 652, doi. 10.1007/s00439-005-0071-3

By:

Choudhry, Shweta;
Coyle, Natasha E.;
Hua Tang;
Salari, Keyan;
Lind, Denise;
Clark, Suzanne L.;
Hui-Ju Tsai;
Naqvi, Mariam;
Phong, Angie;
Ngim Ung;
Matallana, Henry;
Avila, Pedro C.;
Casal, Jesus;
Torres, Alfonso;
Nazario, Sylvette;
Castro, Richard;
Battle, Natalie C.;
Perez-Stable, Eliseo J.;
Pui-Yan Kwok;
Sheppard, Dean

Publication type:

Article

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 618, doi. 10.1007/s00439-005-0077-x

By:

Deprez, Liesbet;
Claes, Lieve R. F.;
Claeys, Kristl G.;
Audenaert, Dominique;
Van Dyck, Tine;
Goossens, Dirk;
Van Paesschen, Wim;
Del-Favero, Jurgen;
Van Broeckhoven, Christine;
De Jonghe, Peter

Publication type:

Article

Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 626, doi. 10.1007/s00439-005-0080-2

By:

Hui-Ju Tsai;
Kho, Jennifer Y.;
Shaikh, Nishat;
Choudhry, Shweta;
Naqvi, Mariam;
Navarro, Daniel;
Matallana, Henry;
Castro, Richard;
Lilly, Craig M.;
Watson, H. George;
Meade, Kelley;
LeNoir, Michael;
Thyne, Shannon;
Ziv, Elad;
Burchard, Esteban González

Publication type:

Article

Ring chromosome 15: characterization by array CGH.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 611, doi. 10.1007/s00439-005-0030-z

By:

Glass, Ian A.;
Rauen, Katherine A.;
Chen, Emily;
Parkes, Jillian;
Alberston, Donna G.;
Pinkel, Daniel;
Cotter, Philip D.

Publication type:

Article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2

By:

Hagens, Olivier;
Dubos, Aline;
Abidi, Fatima;
Barbi, Gotthold;
Van Zutven, Laura;
Hoeltzenbein, Maria;
Tommerup, Niels;
Moraine, Claude;
Fryns, Jean-Pierre;
Chelly, Jamel;
van Bokhoven, Hans;
Gécz, Jozef;
Dollfus, Hélène;
Ropers, Hans-Hilger;
Schwartz, Charles E.;
de Cassia Stocco dos Santos, Rita;
Kalscheuer, Vera;
Hanauer, André

Publication type:

Article

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 559, doi. 10.1007/s00439-005-0084-y

By:

Shoichet, Sarah A.;
Duprez, Laurence;
Hagens, Olivier;
Waetzig, Vicki;
Menzel, Corinna;
Herdegen, Thomas;
Schweiger, Susann;
Dan, Bernard;
Vamos, Esther;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.

Publication type:

Article

The neurobeachin gene spans the common fragile site FRA13A.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 551, doi. 10.1007/s00439-005-0083-z

By:

Savelyeva, Larissa;
Sagulenko, Evgeny;
Schmitt, Jens Guido;
Schwab, Manfred

Publication type:

Article

A novel autosomal recessive non-syndromic hearing impairment locus ( DFNB47) maps to chromosome 2p25.1-p24.3.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 605, doi. 10.1007/s00439-005-0079-8

By:

Hassan, Muhammad Jawad;
Santos, Regie Lyn P.;
Rafiq, Muhammad Arshad;
Chahrour, Maria H.;
Pham, Thanh L.;
Wajid, Muhammad;
Hijab, Nadine;
Wambangco, Michael;
Kwanghyuk Lee;
Ansar, Muhammad;
Kai Yan;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 591, doi. 10.1007/s00439-005-0076-y

By:

Derenko, Miroslava;
Malyarchuk, Boris;
Denisova, Galina A.;
Wozniak, Marcin;
Dambueva, Irina;
Dorzhu, Choduraa;
Luzina, Faina;
Miścicka-Śliwka, Danuta;
Zakharov, Ilia

Publication type:

Article

Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 568, doi. 10.1007/s00439-005-0062-4

By:

Yi-Hsiang Hsu;
Tianhua Niu;
Terwedow, Henry A.;
Xin Xu;
Yan Feng;
Zhiping Li;
Brain, Joseph D.;
Rosen, Cliff J.;
Nan Laird;
Xiping Xu

Publication type:

Article