Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Hungshu Wang"'
1
A supernumerary 'G' like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl
Autor: Hungshu Wang, Alasdair G. W. Hunter
Publikováno v: Clinical Genetics. 15:273-277
This paper describes a retarded girl who had a severe seizure disorder and a few minor anomalies, and who was found to have a "G-sized" supernumerary chromosome in all her cells which were examined. Studies of the patient's and her parents' chromosom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26ed75cb763ecb7e9551fe98c254c87
https://doi.org/10.1111/j.1399-0004.1979.tb00979.x
Zobrazit plný text záznamu
2
Interstitial microdeletion of chromosome 1p in two siblings
Autor: Hungshu Wang, C.G.N. Campbell, G.W. Hunter
Publikováno v: American Journal of Medical Genetics. 111:289-294
Two half-siblings are described with what we believe to be the second and third cases identified of the microdeletion, del(1)(p32.1p32.3). Both siblings had a tethered cord and had mental retardation, but otherwise their phenotypic presentations were
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6dd38b1328b87d042dbd1ab6d7d0e3
https://doi.org/10.1002/ajmg.10595
Zobrazit plný text záznamu
4
Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT)
Autor: J. Philip Welch, Hungshu Wang, Louis Dallaire, Jo Ann Johnson, R. Douglas Wilson, Patrice Eydoux, Darrell J. Tomkins, Elizabeth J. T. Winsor, Philip Wyatt, Dagmar K. Kalousek, Ronald F. Carter, Joel Singer, Jim C.C. Lin, Sandra A. Farrell, Yao Shan Fan, A. J. Dawson
Publikováno v: Prenatal Diagnosis. 19:620-627
Cytogenetic results from a large multicentre randomized controlled study of 2108 amniotic fluids obtained at 11+0–12+6 weeks (EA) and 1999 fluids at 15+0–16+6 weeks (MA) were compared. There was no statistically significant difference in the rate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2fd437fc7d18e62933f88fa009f19a7
https://doi.org/10.1002/(sici)1097-0223(199907)19:7<620::aid-pd599>3.0.co
Zobrazit plný text záznamu
5
Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes
Autor: Linda C. Surh, HungShu Wang, Robert M. Frederickson
Publikováno v: Prenatal Diagnosis. 19:113-117
The polymerase chain reaction (PCR) offers new advances in prenatal genetic diagnosis particularly with limitations in amount of sample, turn-around time of results, and costs. However, maternal contamination is a concern in any fetal sampling, and e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e82eb847be9cac687266c4ea672e7010
https://doi.org/10.1002/(sici)1097-0223(199902)19:2<113::aid-pd475>3.0.co
Zobrazit plný text záznamu
7
Minute chromatin structures in cells of amniotic fluid—an interpretative dilemma
Autor: Alasdair G. W. Hunter, Judith L. Bellinger, Hungshu Wang, Kathleen Brierley, Claire Goldsmith, Laura E. Dawson
Publikováno v: Prenatal Diagnosis. 14:868-872
Single copies of tiny chromosome fragments, appearing either as single or as double minutes, were observed in a high frequency in amniotic fluid cultures of five mothers who underwent prenatal testing because of advanced age. In four cases, the minut
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741349c52a231e44c4301477e225d01e
https://doi.org/10.1002/pd.1970140917
Zobrazit plný text záznamu
8
VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance
Autor: Brian Clifford, Alasdair G. W. Hunter, Diane Thompson, Margaret McLaughlin, Hungshu Wang
Publikováno v: American Journal of Medical Genetics. 47:114-117
The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c03037dda7b6a2620743540b263c86a7
https://doi.org/10.1002/ajmg.1320470124
Zobrazit plný text záznamu
9
Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis
Autor: Margaret McLaughlin, Hungshu Wang, Calvin Thompson, Alasdair G. W. Hunter
Publikováno v: American journal of medical genetics. 46(5)
A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e57d22075a3ac83dfc4d7469216e5d
https://pubmed.ncbi.nlm.nih.gov/8322821
Zobrazit plný text záznamu
10
Deletion and Uniparental Disomy Involving the Same Maternal Chromosome 15
Autor: Hungshu Wang, Alasdair G. W. Hunter, Linda C. Surh
Publikováno v: New England Journal of Medicine. 330:572-573
To the Editor: Genomic imprinting on chromosome 15q11q13 results in two disparate syndromes: Prader-Willi syndrome, in which the paternal 15q11q13 is lacking, and Angelman syndrome, in which the ma...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f64b24a20ccaad3ca3c6461535a6ba6
https://doi.org/10.1056/nejm199402243300813
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje