Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Wendy L. Flejter"'
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)
Fetomaternal hemorrhage (FMH) can be associated with significant perinatal mortality. Our review of the literature did not identify any cases of FMH following placement of an intrauterine pressure catheter (IUPC). In our case, an IUPC was inserted in
Externí odkaz:
https://doaj.org/article/8b996fb7ac0241638e2ce6c5051f5c97
Autor:
Linda M Brooke, Sadia Salim, Sujatha Sunder, Elsa F. Velazquez, Wendy L. Flejter, Julie D.R. Reimann, Lu Wang, Klaus J. Busam, Kelly Morrissey Williams
Publikováno v:
Modern Pathology. 31:1733-1743
While most melanomas can be distinguished from nevi by histopathology, the histology is ambiguous for some melanocytic tumors, contributing to diagnostic uncertainty. Therefore molecular assays, including FISH or SNP array, and more recently a gene e
Autor:
Marier Hernandez-Perez, Daniela Kroshinsky, Andrew J Rand, Genevieve M. Boland, Isaac R Rosenblum, Wendy L. Flejter, Julie D.R. Reimann, Linda M Brooke, Christopher A Dowling
Publikováno v:
Journal of Cutaneous Pathology. 45:136-140
ALK rearrangements occur in up to 10% of spitzoid melanocytic neoplasms. No reported cases have shown homozygous deletion of 9p21 (CDKN2A) or gains of 6p25 (RREB1) or 11q13 (CCND1), which have been associated with aggressive clinical behavior. Here w
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)
Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology
Fetomaternal hemorrhage (FMH) can be associated with significant perinatal mortality. Our review of the literature did not identify any cases of FMH following placement of an intrauterine pressure catheter (IUPC). In our case, an IUPC was inserted in
Autor:
Laura G. Brown, Jae R. Kettlewell, Jadwiga Jaruzelska, Emily D. Parker, David C. Page, Christopher S. Raymond, David Zarkower, Kamila Kusz, Wendy L. Flejter, Yuri Reinberg, Vivian J. Bardwell, Betsy A. Hirsch
Publikováno v:
Human Molecular Genetics. 8:989-996
Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis
Autor:
Wendy L. Flejter, Andrew R. Zinn, H. Allen Gardner, Harvey Kushner, Stuart Schwartz, Judith L. Ross, Vijay S. Tonk, Virginia P. Sybert, Zhong Chen, Daniel L. Van Dyke, Rudy Guerra
Publikováno v:
The American Journal of Human Genetics. 63(6):1757-1766
SummaryTurner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such
Autor:
Wendy L. Flejter, Tena Varvill, Settara C. Chandrasekharappa, Jennifer Fergestad, Jerome L. Gorski
Publikováno v:
The American Journal of Human Genetics. 63(3):794-802
SummaryThe genetic mechanisms involved in sex differentiation are poorly understood, and progress in identification of the genes involved has been slow. The fortuitous finding of chromosomal rearrangements in association with a sex-reversed phenotype
Publikováno v:
American Journal of Medical Genetics. 75:45-51
Cytogenetic studies of 2 sisters with mild microcephaly, growth deficiency, and mild errors of morphogenesis demonstrated a unique combination of multiple trisomies, most often involving chromosomes 8 and 18 either together as sole trisomies or in co
Publikováno v:
American Journal of Medical Genetics. 73:321-326
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8
Autor:
Wayne Nguyen, Susan Root, Wendy L. Flejter, Arthur R. Brothman, David Viskochil, Dana Finlinson
Publikováno v:
American Journal of Medical Genetics. 66:276-280
Ring (19) chromosomal mosaicism has been identified in a 14-month-old girl referred for cytogenetic evaluation due to microcephaly and developmental delay with autistic-like mannerisms. An analysis of her peripheral blood lymphocytes showed a 46,XX,r