Výsledky vyhledávání - "R. S. Wilroy"

Gonadal (ovarian) dysgenesis in 46,XX individuals: Frequency of the autosomal recessive form

Autor: R. S. Wilroy, Rivas Ml, Joe Leigh Simpson, Carol M. Meyers, Joann A. Boughman

Publikováno v: American Journal of Medical Genetics. 63:518-524

Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition. In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d78ed014dc68327f84b0d48d97cd8ec
https://doi.org/10.1002/(sici)1096-8628(19960628)63:4<518::aid-ajmg2>3.0.co

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Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?

Autor: T. C. Teather, K. Hashimoto, Paula R. Martens, Eniko K. Pivnick, R. S. Wilroy

Publikováno v: American Journal of Medical Genetics. 62:386-390

We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ab4da911e7ebaac7a903eb42e714911
https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<386::aid-ajmg11>3.0.co

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Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2

Autor: R. S. Wilroy, J B Summitt, Eniko K. Pivnick, Tucker B, Avirachan T. Tharapel, Herrod Hg

Publikováno v: American Journal of Medical Genetics. 37:92-96

The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a10ec7259fccff9f3a9daa3b03c0f8
https://doi.org/10.1002/ajmg.1320370121

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Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation

Autor: Martens Pr, J D Dalton, Patricia L. Gordon, Avirachan T. Tharapel, R. S. Wilroy

Publikováno v: Journal of Medical Genetics. 30:414-416

A newborn infant with phenotypic features of trisomy for distal 13q was found to have recombinant inversion duplication involving the (13)(q22-->qter) region. Parental karyotypes showed that the mother had a normal 46,XX complement and the father had

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f82bc74492c9606635d328ae52ccd0
https://doi.org/10.1136/jmg.30.5.414

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Localization of SRY by primed in situ labeling in XX and XY sex reversal

Autor: J S, Kadandale, S S, Wachtel, Y, Tunca, R S, Wilroy, P R, Martens, A T, Tharapel

Publikováno v: American journal of medical genetics. 95(1)

Primed in situ labeling (PRINS) can be used to localize DNA segments too small to be detected by fluorescence in situ hybridization. By PRINS we identified the SRY gene in two XX males, a woman with XY gonadal dysgenesis, and an azoospermic male with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cdf3b2ee32b9318718b3ada09cf4c79a
https://pubmed.ncbi.nlm.nih.gov/11074498

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Chromosome duplications and deletions and their mechanisms of origin

Autor: Sugandhi A. Tharapel, K. E. Teague, C. H. Laundon, R. S. Wilroy, P. D. Buchanan, Gopalrao V.N. Velagaleti, Paula R. Martens, Avirachan T. Tharapel, Ron C. Michaelis

Publikováno v: Cytogenetics and cell genetics. 85(3-4)

Duplications and deletions of the same gene loci or chromosome regions are known to produce different clinical manifestations and are significant factors in human morbidity and mortality. Extensive cytogenetic and molecular cytogenetic studies with c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec32c53e872ad758467172c295561b41
https://pubmed.ncbi.nlm.nih.gov/10449919

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Diagnosis of Trisomy 18 Using Spontaneously Dividing Cells from Fetal Umbilical Cord Blood: A Novel Approach for Rapid Late Second and Third Trimester Prenatal Diagnosis

Autor: Joe Leigh Simpson, Michael Moretti, Carole M. Meyers, Lee P. Shulman, R. S. Wilroy, John Summitt, Sherman Elias, Robert E. Tipton, Michael Epps, Avirachan T. Tharapel

Publikováno v: American Journal of Perinatology. 7:211-213

Cytogenetic methodology recently developed by us allows spontaneously dividing cells in fetal cord blood to be used for rapid (24 hours) chromosome analysis. We utilized this methodology to diagnose trisomy 18 and facilitate clinical management in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf987c93ca312f58b9901f0da4d3c17
https://doi.org/10.1055/s-2007-999483

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Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B

Autor: R C, Michaelis, G V, Velagaleti, C, Jones, E K, Pivnick, M C, Phelan, E, Boyd, J, Tarleton, R S, Wilroy, A, Tunnacliffe, A T, Tharapel

Publikováno v: American journal of medical genetics. 76(3)

Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::64c6b2597dfa00e3ed273f2636732de7
https://pubmed.ncbi.nlm.nih.gov/9508241

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