Zobrazeno 1 - 9
of 9
pro vyhledávání: '"H J, Stalker"'
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
Autor:
J, Zhang, A, Kumar, H J, Stalker, G, Virdi, V J, Ferrans, K, Horiba, F J, Fricker, M R, Wallace
Publikováno v:
Clinical genetics. 59(4)
Patients with restrictive cardiomyopathy (RC) have impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure. Primary RC is often sporadic, but also may be inherited in an autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52cd9c7bb1a140ada8af905295b25675
https://pubmed.ncbi.nlm.nih.gov/11298680
https://pubmed.ncbi.nlm.nih.gov/11298680
Autor:
S, Krkljus, C R, Abernathy, J S, Johnson, C A, Williams, D J, Driscoll, R, Zori, H J, Stalker, S A, Rasmussen, F S, Collins, B G, Kousseff, L, Baumbach, M R, Wallace
Publikováno v:
Human mutation. 11(5)
Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the NF1 gene; approximately 100 NF1 gene mutations have been published. The CpG C-to-T transition is a frequent mutation mechanism in genetic disorders. To estimate its freq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5797c5a2da17711864e22ec53a26150
https://pubmed.ncbi.nlm.nih.gov/10336779
https://pubmed.ncbi.nlm.nih.gov/10336779
Publikováno v:
American journal of medical genetics. 78(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::808be671b9905c1c0c02e03e406421ca
https://pubmed.ncbi.nlm.nih.gov/9557895
https://pubmed.ncbi.nlm.nih.gov/9557895
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, C A, Williams
Publikováno v:
American journal of medical genetics. 77(1)
The causal heterogeneity of Angelman syndrome (AS) makes providing information regarding recurrence risk both important and challenging, and may have a dramatic impact on reproductive decision-making for the nuclear and extended family. Most cases of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc9d21b6aeb91077cb43b4db94119414
https://pubmed.ncbi.nlm.nih.gov/9714017
https://pubmed.ncbi.nlm.nih.gov/9714017
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:
C R, Abernathy, S A, Rasmussen, H J, Stalker, R, Zori, D J, Driscoll, C A, Williams, B G, Kousseff, M R, Wallace
Publikováno v:
Human mutation. 9(6)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized predominantly by neurofibromas, café-au-lait spots, and Lisch nodules. The disease is caused by disruptive mutations of the large NF1 gene, with half of cases cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0555d799367b43114ee1da01fb08e76f
https://pubmed.ncbi.nlm.nih.gov/9195229
https://pubmed.ncbi.nlm.nih.gov/9195229
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