Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Nina Scribanu"'
Publikováno v:
Developmental Medicine & Child Neurology. 17:574-579
SUMMARY A survey of the population of the Spina Bifida Service (107 patients) of Georgetown University Hospital, Washington, D.C., and of a control population in the same hospital revealed that, although situated in an ethnically heterogeneous area,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db4f48aedbf04ea11b545a48e2ea77ae
https://doi.org/10.1111/j.1469-8749.1975.tb03523.x
https://doi.org/10.1111/j.1469-8749.1975.tb03523.x
Publikováno v:
Ophthalmic Paediatrics and Genetics. 11:23-30
The authors report the case of a male infant who presented with growth retardation and multiple congenital anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge. Eye examination revealed Rieger anomaly, nasolacrima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc84dc4b8c45e284bd35c1a3e3762afe
https://doi.org/10.3109/13816819009012945
https://doi.org/10.3109/13816819009012945
Autor:
Anne D. Letocha, Wayne A. Cabral, Andrzej Steplewski, Nina Scribanu, Andrzej Fertala, Anton V. Persikov, Elena Makareeva, Douglas R. Keene, Sergey Leikin, Joan C. Marini
Publikováno v:
Human mutation. 28(4)
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glycine in a Gly-Xaa-Yaa triplet by another amino acid. We delineated a Y-position substitution in a small pedigree with a combin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6100b2718b93f95e34bb6b9a312dcb
https://pubmed.ncbi.nlm.nih.gov/17206620
https://pubmed.ncbi.nlm.nih.gov/17206620
Autor:
Kattayoon Hashemi, Nina Scribanu, Elias I. Traboulsi, Richard M. Chavis, Georgia Antonakou Chrousos
Publikováno v:
Journal of pediatric ophthalmology and strabismus. 28(4)
The malformations in the amniotic band syndrome (ABS) are due to entrapment of fetal parts by fibrous band in the amniotic sac.1 Limbs are most commonly affected followed by craniofacial defects in one third of patients.2 Ocular defects include corne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa70d75573da150558eaef90dfadddd
https://pubmed.ncbi.nlm.nih.gov/1919974
https://pubmed.ncbi.nlm.nih.gov/1919974
Autor:
Nina Scribanu, Victor Ionasescu
Publikováno v:
European Neurology. 20:46-51
This report describes a 3-year-old male patient with dwarfism, generalized muscular hypertrophy, stiffness, myotonia, multiple skeletal deformities and normal intelligence. Serum creatine kinase was t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1073d49bfa06a3c44ccc4c71e208efd5
https://doi.org/10.1159/000115204
https://doi.org/10.1159/000115204
Publikováno v:
Physical Therapy. 56:553-558
Intelligence test scores on the Stanford-Binet Intelligence Scale and the Merrill Palmer Scale were studied for 23 cerebral-palsied children to determine the stability and comparability of these measures during the preschool years as well as the rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73c2ed25ce0f69abe9dbf5669f794c10
https://doi.org/10.1093/ptj/56.5.553
https://doi.org/10.1093/ptj/56.5.553
Publikováno v:
Ophthalmic paediatrics and genetics. 8(3)
The authors report the case of a female infant who presented with bilateral congenital glaucoma and myopia diagnosed at six weeks. Her facies was flat with a very low nasal bridge and a vascular nevus covering the glabellar area, micrognathia and hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2440dc8a9d66f24b1e9529a9a247164f
https://pubmed.ncbi.nlm.nih.gov/3438054
https://pubmed.ncbi.nlm.nih.gov/3438054
Autor:
Samia A. Temtamy, Nina Scribanu
Publikováno v:
The Journal of pediatrics. 87(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0286e984e6ec29b267202c7814a0e59
https://pubmed.ncbi.nlm.nih.gov/1173820
https://pubmed.ncbi.nlm.nih.gov/1173820
Publikováno v:
American journal of medical genetics. 5(2)
We have studied a 13 month'old girl with failure to thrive, developmental delay, and dysmorphic features. At 13 months, the weight'age was 1 month, length'age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d309ebaa8dbde31e70de5a4534bf7f4
https://pubmed.ncbi.nlm.nih.gov/7395909
https://pubmed.ncbi.nlm.nih.gov/7395909
Autor:
Rebecca Jesse, Joseph A. Bellanti, Robert C Baumiller, Nina Scribanu, Angel R Colon, Eva B Mccullars
Publikováno v:
Pediatric Research. 12:453-453
Advances in the development of banding techniques have facilitated the identification of a number of new chromosomal abnormalities. We studied a 13 mo. old girl with a history of failure to thrive, developmental delay and dysmorphic features. Chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abc528dd67a3dd3099a394e28f01533b
https://doi.org/10.1203/00006450-197804001-00540
https://doi.org/10.1203/00006450-197804001-00540