Zobrazeno 1 - 10
of 27
pro vyhledávání: '"H E, Wyandt"'
Autor:
S. H., Shim, A., Pan, X. L., Huang, V. S., Tonk, S. K., Varma, J. M., Milunsky, H. E., Wyandt
Publikováno v:
Journal of the Association of Genetic Technologists. 29(4)
We present our experience with cross-hybridization of D15Z1, used in combination with D15S10, D15S11 or SNRPN, in 109 clinical cases referred for Angelman syndrome (AS), Prader-Willi syndrome (PWS), for autism to rule out duplication of 15q11.2, or t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f04bf8c15d4ed280812212720d78103
https://pubmed.ncbi.nlm.nih.gov/15213412
https://pubmed.ncbi.nlm.nih.gov/15213412
Publikováno v:
Clinical genetics. 66(1)
At 6 years of age, a boy with bilateral sensorineural deafness, lateral displacement of inner canthi, a bulbous nasal tip, synophrys, and cryptorchidism was clinically diagnosed as having Waardenburg's syndrome type I (WS-1). In addition, he had a lu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ceeb78e319a3e5d8196910cdf26c8616
https://pubmed.ncbi.nlm.nih.gov/15200507
https://pubmed.ncbi.nlm.nih.gov/15200507
Publikováno v:
Clinical genetics. 62(5)
Karyotypes from independent amniocenteses reflected a rare, unstable, functionally dicentric Robertsonian translocation chromosome in most cells in male Twin B who grew more slowly than the chromosomally normal female sib (Twin A). Twin B's balanced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c14d5914a85a2489854f6e93162f4239
https://pubmed.ncbi.nlm.nih.gov/12431253
https://pubmed.ncbi.nlm.nih.gov/12431253
Autor:
P S, Ing, D L, Van Dyke, S P, Caudill, J A, Reidy, G, Bice, F R, Bieber, P D, Buchanan, A J, Carroll, S W, Cheung, G, DeWald, R P, Donahue, H A, Gardner, J, Higgins, L Y, Hsu, M, Jamehdor, E A, Keitges, C H, Laundon, F W, Luthardt, J, Mascarello, K M, May, J M, Meck, C, Morton, S, Patil, D, Peakman, M J, Pettenati, N, Rao, W G, Sanger, D F, Saxe, S, Schwartz, G S, Sekhon, G H, Vance, H E, Wyandt, C W, Yu, J, Zenger-Hain, A T, Chen
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 1(3)
To evaluate the assumptions on which the American College of Medical Genetics (ACMG) Standards and Guidelines for detecting mosaicism in amniotic fluid cultures are based.Data from 653 cases of amniotic fluid mosaicism were collected from 26 laborato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::431746c694bdf3d2b5c76074bf721faa
https://pubmed.ncbi.nlm.nih.gov/11336459
https://pubmed.ncbi.nlm.nih.gov/11336459
Publikováno v:
American journal of medical genetics. 93(4)
A 19-week stillborn female fetus with bilateral cleft palate, horseshoe kidney, bicornuate uterus, low-set ears, and intrauterine growth retardation (IUGR) was found to have a supernumerary derivative chromosome 9 (der(9)) with an apparent tandem dup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dd0f8ec92ad558c0aba01f95e4044f88
https://pubmed.ncbi.nlm.nih.gov/11337755
https://pubmed.ncbi.nlm.nih.gov/11337755
Publikováno v:
Annals of the New York Academy of Sciences. 883
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4357cc55b116a205bbe96b04e69d0e20
https://pubmed.ncbi.nlm.nih.gov/10586277
https://pubmed.ncbi.nlm.nih.gov/10586277
Publikováno v:
Clinical genetics. 55(6)
Multiple genetic loci have been implicated in the search for schizophrenia susceptibility genes, none having been proven as causal. Genetic heterogeneity is probable in the polygenic etiology of schizophrenia. We report on two unrelated Caucasian wom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f17949b655b8a7c5830691b341d04f6
https://pubmed.ncbi.nlm.nih.gov/10450863
https://pubmed.ncbi.nlm.nih.gov/10450863
Publikováno v:
American journal of medical genetics. 85(5)
An amniocyte culture was found to be mosaic for 45,X/46,X, idic(X)(p11.2)/ 47,X, idic(X)(p11.2),idic(X)(p11.2) cell lines, reflecting mitotic nondisjunction of the idic(X)(p11.2) chromosome. Upon learning of abnormal karyotype and ultrasound findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d873d9230e84fdbd48aeb926a51991d
https://pubmed.ncbi.nlm.nih.gov/10405438
https://pubmed.ncbi.nlm.nih.gov/10405438
Publikováno v:
American journal of medical genetics. 61(3)
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46,XX/47,XX,+15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotoni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5bbef3135bc5377fcf3a9346f612e30d
https://pubmed.ncbi.nlm.nih.gov/8741873
https://pubmed.ncbi.nlm.nih.gov/8741873
Autor:
Vanessa M. Barnabei, S. S. Wachtel, K. Willson-Suddath, L. Cahill, Thaddeus E. Kelly, H. E. Wyandt
Publikováno v:
Cytogenetic and Genome Research. 38:122-126
In women X;Y translocations usually arise as Xp-Yq exchanges. We describe a 17-year-old female with streak gonads, some minor features of Turner’s syndrome, and an X;Y translocation involving an exchange between Xq and Yq. Histological examination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49909e9d8c2ad7edf1b178ae010c3bef
https://doi.org/10.1159/000132043
https://doi.org/10.1159/000132043