Zobrazeno 1 - 7
of 7
pro vyhledávání: '"I D, Krantz"'
Publikováno v:
Clinical genetics. 89(5)
Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ba16a01b2573133c043dac7b0f5307e
https://pubmed.ncbi.nlm.nih.gov/26663098
https://pubmed.ncbi.nlm.nih.gov/26663098
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:
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. 94(2)
We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::34c5b8a5cda4c08d8c467ccab4a9d121
https://pubmed.ncbi.nlm.nih.gov/10982969
https://pubmed.ncbi.nlm.nih.gov/10982969
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
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
Autor:
D. M. Warthen, E. C. Moore, B. M. Kamath, J. J. D. Morrissette, P. A. Sanchez-Lara, D. A. Piccoli, I. D. Krantz, N. B. Spinner
Publikováno v:
Human Mutation. 34:408-408
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd1f78fdca84f6de843235b5d81dc325
https://doi.org/10.1002/humu.22255
https://doi.org/10.1002/humu.22255