Zobrazeno 1 - 10
of 10
pro vyhledávání: '"R T, Zori"'
Autor:
F Z, Boyar, M M, Whitney, A C, Lossie, B A, Gray, K L, Keller, H J, Stalker, R T, Zori, G, Geffken, J, Mutch, P J, Edge, K S, Voeller, C A, Williams, D J, Driscoll
Publikováno v:
Clinical genetics. 60(6)
About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0cf0384ddde4c3aadf9fd2d9e11f7714
https://pubmed.ncbi.nlm.nih.gov/11846734
https://pubmed.ncbi.nlm.nih.gov/11846734
Publikováno v:
Clinical genetics. 60(1)
The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84429cd581511c6516d03a27ca8703ee
https://pubmed.ncbi.nlm.nih.gov/11531974
https://pubmed.ncbi.nlm.nih.gov/11531974
Publikováno v:
Genes, chromosomescancer. 27(2)
Dermal and plexiform neurofibromas are benign peripheral nerve sheath tumors that arise in neurofibromatosis type 1 (NF1). NF1 patients also have an increased risk of malignant peripheral nerve sheath tumors (MPNSTs), thought to arise in a subset of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a5f267b6a078e2aabc974bf688455d9
https://pubmed.ncbi.nlm.nih.gov/10612798
https://pubmed.ncbi.nlm.nih.gov/10612798
Publikováno v:
American journal of medical genetics. 80(4)
Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef0a640edb72768493ed0be69740eb0a
https://pubmed.ncbi.nlm.nih.gov/9856571
https://pubmed.ncbi.nlm.nih.gov/9856571
Autor:
R T, Zori, J L, Gardner, J, Zhang, M J, Mullan, R, Shah, A R, Osborn, H, Houlden, M R, Wallace, S, Roberts, T P, Yang
Publikováno v:
American journal of medical genetics. 78(5)
Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause. Four distinct types of X-linked art
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f8cc3060656dcb80e57176cff68d3289
https://pubmed.ncbi.nlm.nih.gov/9714012
https://pubmed.ncbi.nlm.nih.gov/9714012
Autor:
R T, Zori, F Z, Boyar, W N, Williams, B A, Gray, A, Bent-Williams, H J, Stalker, L A, Rimer, J A, Nackashi, D J, Driscoll, S A, Rasmussen, V, Dixon-Wood, C A, Williams
Publikováno v:
American journal of medical genetics. 77(1)
Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::48d52e1f2e7a84ab8a5b9473f8e5476c
https://pubmed.ncbi.nlm.nih.gov/9557885
https://pubmed.ncbi.nlm.nih.gov/9557885
Autor:
H J, Stalker, R T, Zori
Publikováno v:
American journal of medical genetics. 73(3)
We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib "dysplasia," scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::03476dfdc8501578de3394235d685eba
https://pubmed.ncbi.nlm.nih.gov/15578585
https://pubmed.ncbi.nlm.nih.gov/15578585
Autor:
S A, Rasmussen, C A, Williams, E M, Ayoub, J W, Sleasman, B A, Gray, A, Bent-Williams, H J, Stalker, R T, Zori
Publikováno v:
American journal of medical genetics. 64(4)
We report on two patients with velo-cardio-facial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA). The first, a 9-year-old girl, presented with microcephaly, characteristic face, congenital heart disease, and velopharyngeal insufficiency. Flu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8aa9046adeac75f62b87a9251d361ec7
https://pubmed.ncbi.nlm.nih.gov/9286462
https://pubmed.ncbi.nlm.nih.gov/9286462
Autor:
R. T. Zori, Maria J. Mascari, W. Gottlieb, D. J. Driscoll, M. F. Waters, G. S. Pai, Merlin G. Butler, P. E. Neumann, J. L. Zackowski, C. A. Williams, B. Horsthemke, Roger L. Ladda, Peter K. Rogan, E. M. Rinchik, Robert D. Nicholls
Publikováno v:
Prader-Willi Syndrome ISBN: 9783642842856
Deletions or uniparental disomy for human chromosome 15q11q13 result in Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS), depending upon the respective parental origin. Clinical and cytogenetic aspects of the two disorders are covered elsewhere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63f83c1dd80e746fbf00803714f82031
https://doi.org/10.1007/978-3-642-84283-2_6
https://doi.org/10.1007/978-3-642-84283-2_6
Publikováno v:
JAMA. 247(7)
Despite the well-recognized advantages of breast-feeding to both mother and child, malnutrition of breast-fed infants can occur. We report two cases of breast-fed infants with cachexia, hypernatremia, and, in the one case in which it was measured, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cdfc5ac3f6b0c48c886e103a5d752090
https://pubmed.ncbi.nlm.nih.gov/7057575
https://pubmed.ncbi.nlm.nih.gov/7057575