Results 301 to 310 of about 774,968 (312)

Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation

Pediatric nephrology (Berlin, West), 2010
K. Iijima, K. Nozu, K. Kamei, M. Nakayama, S. Ito, K. Matsuoka, T. Ogata, H. Kaito, K. Nakanishi, M. Matsuo   +9 more
semanticscholar   +1 more source

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Clinical Dysmorphology, 2008
T. Kosho, S. Sakazume, H. Kawame, K. Wakui, T. Wada, Y. Okoshi, M. Mikawa, T. Hasegawa, N. Matsuura, N. Niikawa, N. Matsumoto, Y. Fukushima   +11 more
semanticscholar   +1 more source

Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Clinical Genetics, 2009
D. Tegay, D. Tegay, K. Chan, L. Leung, C. Wang, S. Burkett, G. Stone, R. Stanyon, H. Toriello, E. Hatchwell   +9 more
semanticscholar   +1 more source

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Epilepsia, 2008
R. Møller, Lizette M. Schneider, C. P. Hansen, M. Bugge, R. Ullmann, N. Tommerup, Z. Tümer   +6 more
semanticscholar   +1 more source

Transmitting balanced translocation carrier information within families: a follow-up study.

American journal of medical genetics, 1985
L. Suslak, D. M. Price, F. Desposito
semanticscholar   +1 more source

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

Human Genetics, 2002
T. Mcmullan, J. Crolla, S. Gregory, N. Carter, R. Cooper, G. Howell, D. Robinson   +6 more
semanticscholar   +1 more source

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature Genetics, 2000
R. Zemni, T. Bienvenu, M. Vinet, A. Sefiani, A. Carrié, P. Billuart, N. Mcdonell, P. Couvert, F. Francis, P. Chafey, F. Fauchereau, G. Friocourt, V. Portes, A. Cardona, S. Frints, A. Meindl, O. Brandau, N. Ronce, C. Moraine, H. Bokhoven, H. Ropers, R. Sudbrak, A. Kahn, J. Fryns, C. Beldjord, J. Chelly   +25 more
semanticscholar   +1 more source

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

Genomics, 2002
F. Spitz, Thomas Montavon, C. Monso‐Hinard, M. Morris, M. Ventruto, S. Antonarakis, V. Ventruto, D. Duboule   +7 more
semanticscholar   +1 more source

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

Nature Genetics, 1995
M. Budarf, J. Collins, W. Gong, B. Roe, Zhili Wang, L. C. Bailey, B. Sellinger, D. Michaud, D. Driscoll, Beverly S Emanuel   +9 more
semanticscholar   +1 more source

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Human Molecular Genetics, 1995
S. Demczuk, R. Aledo, J. Zucman, O. Delattre, C. Desmaze, L. Dauphinot, P. Jalbert, G. Rouleau, G. Thomas, A. Aurias   +9 more
semanticscholar   +1 more source