Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Martin G. Bialer"'
Autor:
M. J. Hajianpour, Lynne S. Rosenblum-Vos, Evelyn M. Karson, Dru E. Carlson, Nathan Fischel-Ghodsian, Dmitriy A. Shchepin, Rena E. Falk, Elizabeth Roeder, Carolyn Trunca, Sucheta Bhatt, Charles H. Hux, Rhona Schreck, Wei Tong Hsu, Elizabeth A. Leeth, Rong Mao, Elizabeth Berry-Kravis, Sandra K. Linn, Jin Chen C Wang, Martin G. Bialer, Ann Garber
Publikováno v:
American Journal of Medical Genetics. 80:473-480
Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and
Autor:
Mary Leppert, Michael T. Geraghty, Barbara K. Goodman, Sarantis Gagos, Xianting Zhou, Stuart K. Shapira, Karen Harum, Martin G. Bialer, Lisa G. Shaffer, James H. Ray, Julie Rutberg, Beth A. Pletcher
Publikováno v:
American Journal of Medical Genetics. 80:377-384
We describe the clinical phenotype in four males from three families with duplication (X)(qterq27::p22.3qter). This is an unusual duplication of the distal long arm segment, Xq27-qter, onto the distal short arm of the X chromosome at Xp22.3, as shown
Autor:
W. Ted Brown, Xiaohua Ding, Ira L. Cohen, Martin G. Bialer, Vicki Sudhalter, Carl Dobkin, E. C. Jenkins, Sarah L. Nolin, Nan Zhong
Publikováno v:
American Journal of Medical Genetics. 64:296-301
The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a "full mutation" allele from which there is no gene expression and a "premutation" allele
Autor:
Marjorie K. Williams, Martin G. Bialer, C. E. Schwartz, Herbert A. Lubs, Roger E. Stevenson, J. Fernando Arena, Gittel Silverberg, Laura Lawrence
Publikováno v:
American Journal of Medical Genetics. 43:491-497
We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria,
Autor:
Kathleen Valverde, Leonard J. Rossoff, Fred Gilbert, Iordanis I. Arzimanoglou, Zhen Li, Martin G. Bialer, Jack Gorvoy, Joyce Honorof, Lynne Quittell, Celia Ores, Carolyn Denning
Publikováno v:
American journal of medical genetics. 58(4)
We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the co
Autor:
Martin G. Bialer, Victor B. Penchaszadeh, Ellen Kahn, Richard Libes, Gary Krigsman, Martin L. Lesser, John M. Opitz, James F. Reynolds
Publikováno v:
American Journal of Medical Genetics. 28:723-731
We report on a 46,XY newborn infant with Smith-Lemli-Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several inter
Publikováno v:
American Journal of Medical Genetics. 30:835-837
Publikováno v:
American journal of medical genetics. 33(3)
The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristi