Zobrazeno 1 - 10
of 15
pro vyhledávání: '"N. B. Spinner"'
Autor:
D M, Warthen, E C, Moore, B M, Kamath, J J D, Morrissette, P A, Sanchez-Lara, P, Sanchez, D A, Piccoli, I D, Krantz, N B, Spinner
Publikováno v:
Human Mutation. 27:436-443
Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad92418b3202c34f5e8bae02a5772da3
https://doi.org/10.1002/humu.20310
https://doi.org/10.1002/humu.20310
Publikováno v:
Clinical genetics. 83(1)
Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a3f7bcd5a5b5c6d4cdd5499c2834ba6
https://pubmed.ncbi.nlm.nih.gov/22989118
https://pubmed.ncbi.nlm.nih.gov/22989118
Publikováno v:
Human mutation. 17(2)
Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::77fa77a37201401d2df520ea202ccddd
https://pubmed.ncbi.nlm.nih.gov/11180599
https://pubmed.ncbi.nlm.nih.gov/11180599
Publikováno v:
American journal of medical genetics. 99(1)
We present a patient with bilateral retinoblastoma and developmental delay who has an abnormal male karyotype containing 47 chromosomes, including an acentric derivative chromosome 13. We postulate that the derivative 13 occurred after a break at 13q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae992d8604416c95b5f5d13ea3970cec
https://pubmed.ncbi.nlm.nih.gov/11170089
https://pubmed.ncbi.nlm.nih.gov/11170089
Publikováno v:
Human mutation. 16(5)
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene (JAG1) have been found to result in the AGS phenotype and both protein truncat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9665f0825d7a0a797f587fd1468cd420
https://pubmed.ncbi.nlm.nih.gov/11058898
https://pubmed.ncbi.nlm.nih.gov/11058898
Autor:
I D, Krantz, R, Smith, R P, Colliton, H, Tinkel, E H, Zackai, D A, Piccoli, E, Goldmuntz, N B, Spinner
Publikováno v:
American journal of medical genetics. 84(1)
Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::619316fc750b6b193b041c8396a5130d
https://pubmed.ncbi.nlm.nih.gov/10213047
https://pubmed.ncbi.nlm.nih.gov/10213047
Publikováno v:
The Journal of biological chemistry. 273(27)
Expression of the rat PRL-1 gene, which encodes a unique nuclear protein tyrosine phosphatase, is positively associated with cellular growth during liver development, regeneration, and oncogenesis but with differentiation in intestine and other tissu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f67278f72fcb3dbe52951b16a395d0ba
https://pubmed.ncbi.nlm.nih.gov/9642300
https://pubmed.ncbi.nlm.nih.gov/9642300
Autor:
C A, Felix, C S, Kim, M D, Megonigal, D J, Slater, D H, Jones, N B, Spinner, T, Stump, M R, Hosler, P C, Nowell, B J, Lange, E F, Rappaport
Publikováno v:
Blood. 90(12)
We used a new approach called panhandle polymerase chain reaction (PCR) to clone an MLL genomic translocation breakpoint in a case of acute lymphoblastic leukemia of infancy in which karyotype analysis was technically unsuccessful and did not show th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8f01fc4a6488f25350f94d6ea9613d09
https://pubmed.ncbi.nlm.nih.gov/9389682
https://pubmed.ncbi.nlm.nih.gov/9389682
Autor:
I D, Krantz, E B, Rand, A, Genin, P, Hunt, M, Jones, A A, Louis, J M, Graham, S, Bhatt, D A, Piccoli, N B, Spinner
Publikováno v:
American journal of medical genetics. 70(1)
Alagille syndrome is an autosomal dominant disorder comprising cholestasis (associated with intrahepatic bile duct paucity), characteristic facial appearance, and cardiac, ocular and skeletal defects. Multiple patients have been reported with deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4519ef7d9feb2bc24654514606e80ea2
https://pubmed.ncbi.nlm.nih.gov/9129746
https://pubmed.ncbi.nlm.nih.gov/9129746
Publikováno v:
American journal of medical genetics. 61(4)
We report on a patient with dup(17p) and monosomy (10q) resulting from a familial translocation. Manifestations typical of both syndromes were present. The overall development of this patient was better by comparison with similar reported cases of ei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::14edee52949863614abd260a19695af7
https://pubmed.ncbi.nlm.nih.gov/8834051
https://pubmed.ncbi.nlm.nih.gov/8834051