Zobrazeno 1 - 10 of 13 pro vyhledávání: '"J. M. Milunsky"'
1
LADD syndrome is caused by FGF10 mutations
Autor: J M, Milunsky, G, Zhao, T A, Maher, R, Colby, D B, Everman
Publikováno v: Clinical genetics. 69(4)
Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d60dcd25ac5817bec928d3495eefd973
https://pubmed.ncbi.nlm.nih.gov/16630169
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2
FISH Variants with D15Z1
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
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3
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
Autor: J M, Milunsky, X L, Huang
Publikováno v: Clinical genetics. 64(6)
Kabuki syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome that heretofore has had an unknown etiology. Although several cases with KS features have been reported with different chromosome anomalies, none have had an autosoma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22cb290ac8601cf3ec38baf50f60435c
https://pubmed.ncbi.nlm.nih.gov/18336587
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4
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease
Autor: J M, Milunsky, T A, Maher, B A, Loose, B T, Darras, M, Ito
Publikováno v: Clinical genetics. 64(1)
Juvenile Huntington's disease (HD) becomes clinically manifest before 20 years of age. The diagnosis of HD is based on family history, characteristic clinical findings, and the detection of an expansion of a CAG polyglutamine tract in the Huntingtin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f214bfc44c65e4e2e87a172441feca8e
https://pubmed.ncbi.nlm.nih.gov/12791042
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5
Cerebro-oculo-facial-lymphatic syndrome
Autor: J M, Milunsky, D M, Capin
Publikováno v: Clinical genetics. 63(4)
We describe a boy whose prime features are severe-to-profound mental retardation, intractable complex seizures, lissencephaly, facial dysmorphism, and lymphatic abnormalities. To our knowledge, this is the fourth reported case of this syndrome. We pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4947272c7886a3ff69ef03d18cceae6a
https://pubmed.ncbi.nlm.nih.gov/12702162
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6
An unstable dicentric Robertsonian translocation in a markedly discordant twin
Autor: R V, Lebo, H E, Wyandt, P E, Warburton, S, Li, J M, Milunsky
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
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7
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
Autor: R V, Lebo, T, Ikuta, J M, Milunsky, A, Milunsky
Publikováno v: Clinical genetics. 59(6)
Rett syndrome results from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene, which are nearly always lethal in males and lead to regression and reduced life expectancy in females. Herein we report one propositus with five tandem de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9561d60f7612720e433990422d4e8aaf
https://pubmed.ncbi.nlm.nih.gov/11453972
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9
Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes
Autor: T J, McCallum, J M, Milunsky, D L, Cunningham, D H, Harris, T A, Maher, R D, Oates
Publikováno v: Chest. 118(4)
Men with cystic fibrosis (CF) have bilateral absence of the vas deferens causing an obstructive azoospermia that is not amenable to surgical correction. Advances in the field of reproductive medicine allow for the procurement of viable sperm and faci
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::64ef4a78c801b21c493b386d24eb3ed1
https://pubmed.ncbi.nlm.nih.gov/11035652
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10
Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy
Autor: H E, Wyandt, R V, Lebo, E Y, Fenerci, D N, Sadhu, J M, Milunsky
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
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