Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Judith P. Willner"'
Autor:
Latha Soorya, Guiqing Cai, Ana Tryfon, Joseph D. Buxbaum, Yuji Kajiwara, Nagahide Takahashi, Judith P. Willner, Alexander Kolevzon, David Grodberg
Publikováno v:
Brain Research. 1380:98-105
There is strong evidence for rare, highly penetrant genetic variants playing an etiological role in multiple neurodevelopmental disabilities, including autism spectrum disorders. The rate of discovery of such rare variants is increasing with the adve
Publikováno v:
Ophthalmic Genetics. 31:178-182
Choroideremia is an X-linked recessive disorder characterized by vision loss with progressive atrophy of the retinal photoreceptors, retinal pigment epithelium (RPE), and choriocapillaris. Ectodermal dysplasia is a heterogeneous group of disorders ch
Autor:
Judith P. Willner, Arvind Babu, Robert J. Desnick, Susan R. Manea, Philip D. Cotter, Irina F. Gershin
Publikováno v:
Clinical Genetics. 52:432-435
Supernumerary ring X [r(X)] chromosomes are often found in patients with Turner syndrome. The phenotypic effects of the r(X) chromosome are variable, and largely depend on the presence or absence of the X inactivation (XIST) locus. Ring(X) chromosome
Autor:
Stephen J. Chanock, Babette B. Weksler, Neelam Giri, Peter M. Lansdorp, June A. Peters, Judith P. Willner, Blanche P. Alter, Gabriela M. Baerlocher, Sharon A. Savage
Publikováno v:
Blood. 110:1439-1447
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. We used multicolor flow fl
Autor:
Sara Shanske, Yutaka Nishigaki, Jose Carlo, Judith P. Willner, Carolyn M. Sue, Kurenai Tanji, Eric A. Schon, Salvatore DiMauro, Yingying Tang, Sindu Krishna, Eduardo Bonilla, Michio Hirano
Publikováno v:
The American Journal of Human Genetics. 71(3):679-683
Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia
Autor:
Judith P. Willner, Jesse Jacob, Donna Blumenthal, Joyce E. Fox, Guy Pierno, Ann-Leslie Zaslav
Publikováno v:
American Journal of Medical Genetics. 95:381-384
Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at
Autor:
Jared M. Wasserman, Milton J. Reitman, Jian Zhang, Robert J. Sommer, Bruce D. Gelb, Judith P. Willner
Publikováno v:
American Journal of Medical Genetics. 87:175-179
The association between cardiac and limb defects, particularly those affecting the hand, has been well documented by the delineation of several heart-hand syndromes. Based on observations with a three-generation family with seven affected individuals
Publikováno v:
Prenatal Diagnosis. 18:857-861
Mosaicism for an unbalanced reciprocal translocation was identified in cultured amniocytes of a 16-week-old fetus; mos46,XX,der(4)t(4;5)(q34;q12)/46,XX. Parental karyotypes were normal, indicating a de novo origin of the unbalanced translocation in t
Autor:
Judith P. Willner, Arvind Babu, Robert J. Desnick, Richard L. Neu, Patricia Ashton-Prolla, Philip D. Cotter, Randi E. Zinberg, Irina F. Gershin
Publikováno v:
American Journal of Medical Genetics. 73:470-473
An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16-week female fetus by analysis of cultured amniocytes. Fluorescence in situ hybridization (FISH) with a chromosome 11 paint identified the presence of an in
Autor:
Irina F. Gershin, Leslie D. McCurdy, Robert J. Desnick, Judith P. Willner, Philip D. Cotter, Arvind Babu
Publikováno v:
American Journal of Medical Genetics. 71:325-328
A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confi