Zobrazeno 1 - 10
of 41
pro vyhledávání: '"E H, Zackai"'
Autor:
A. F., Simpao, I. R., Randazzo, J. L., Chittams, N., Burnham, M., Gerdes, J. C., Bernbaum, T., Walker, S., Imsdahl, A. G., DeWitt, E. H., Zackai, J. W., Gaynor, A. W., Loepke
Publikováno v:
Obstetric Anesthesia Digest; Sep2024, Vol. 44 Issue 3, p158-158, 3/4p
Publikováno v:
Advances in pediatrics. 48
Estimates suggest that the 22q11.2 deletion occurs in approximately 1 in 4000 live births, making this disorder a significant health concern in the general population. The 22q11.2 deletion has been identified in the majority of patients with DiGeorge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37538bb29b47e4c755fa190a4d659562
https://pubmed.ncbi.nlm.nih.gov/11480765
https://pubmed.ncbi.nlm.nih.gov/11480765
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. 15(2)
Saethre-Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription facto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc121e6c558125ee9535f79cce583e71
https://pubmed.ncbi.nlm.nih.gov/10649491
https://pubmed.ncbi.nlm.nih.gov/10649491
Autor:
M, Gerdes, C, Solot, P P, Wang, E, Moss, D, LaRossa, P, Randall, E, Goldmuntz, B J, Clark, D A, Driscoll, A, Jawad, B S, Emanuel, D M, McDonald-McGinn, M L, Batshaw, E H, Zackai
Publikováno v:
American journal of medical genetics. 85(2)
A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::423599437e720a96303b720bcff63617
https://pubmed.ncbi.nlm.nih.gov/10406665
https://pubmed.ncbi.nlm.nih.gov/10406665
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:
American journal of medical genetics. 82(5)
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::63fe4a0eb4155580f7d5052f705a82cc
https://pubmed.ncbi.nlm.nih.gov/10069704
https://pubmed.ncbi.nlm.nih.gov/10069704
Publikováno v:
American journal of medical genetics. 82(2)
The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50220e0be8ef27dc42075f87561d9e60
https://pubmed.ncbi.nlm.nih.gov/9934984
https://pubmed.ncbi.nlm.nih.gov/9934984
Publikováno v:
American journal of medical genetics. 78(5)
The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1df93dc3bbf873230351558a1b38c600
https://pubmed.ncbi.nlm.nih.gov/9714016
https://pubmed.ncbi.nlm.nih.gov/9714016
Autor:
K W, Gripp, C A, Stolle, D M, McDonald-McGinn, R I, Markowitz, S P, Bartlett, J A, Katowitz, M, Muenke, E H, Zackai
Publikováno v:
American journal of medical genetics. 78(4)
We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::259176f9bb103beeb47547c87b6762c8
https://pubmed.ncbi.nlm.nih.gov/9714439
https://pubmed.ncbi.nlm.nih.gov/9714439