Zobrazeno 1 - 10
of 24
pro vyhledávání: '"T. I. Farag"'
Autor:
M A, Mubashir, M A, Sabry, S, Farah, N, Haseeb, B, Quasrawi, W, al-Busairi, R, al-Dabbous, S A, al-Awadi, T I, Farag
Publikováno v:
Clinical dysmorphology. 8(1)
A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus total
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca98e3cef569f0d37564154ff2af9a90
https://pubmed.ncbi.nlm.nih.gov/10327248
https://pubmed.ncbi.nlm.nih.gov/10327248
Autor:
S. A. Al Awadi, S J Abulhassan, T I Farag, Z Al-Mazidi, N. A. Al-Torki, M. Zaki, A Quishawi, A A Shaltout, Mohamed Sabry
Publikováno v:
Clinical genetics. 55(1)
We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6d54ba01a22c50b691bc982232c491e
https://pubmed.ncbi.nlm.nih.gov/10066031
https://pubmed.ncbi.nlm.nih.gov/10066031
Publikováno v:
American journal of medical genetics. 69(2)
We are reporting on 16 children, in 6 unrelated sibships, born to healthy, consanguineous parents of Bedouin ancestry. Eleven of them were assessed clinically. All presented with marked growth retardation, craniofacial anomalies, small hands and feet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5267154aca3af9a7b4927910a984c238
https://pubmed.ncbi.nlm.nih.gov/9056548
https://pubmed.ncbi.nlm.nih.gov/9056548
Publikováno v:
American journal of medical genetics. 68(1)
We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polyda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc70d2617be89bb59ab8ffd40fe90836
https://pubmed.ncbi.nlm.nih.gov/8986276
https://pubmed.ncbi.nlm.nih.gov/8986276
Autor:
M A, Redha, D S, Krishna Murthy, S A, al-Awadi, I S, al-Sulaiman, M A, Sabry, S A, el-Bahey, T I, Farag
Publikováno v:
Annales de genetique. 39(1)
A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12fb997f1f98cca00f4117e15346aecd
https://pubmed.ncbi.nlm.nih.gov/9297445
https://pubmed.ncbi.nlm.nih.gov/9297445
Autor:
D S, Krishna Murthy, T I, Farag
Publikováno v:
Annales de genetique. 38(4)
Two young, unrelated multiplex families with Bedouin ancestors, each confirmed to have 3 sibs with recurrent regular trisomy-21 are reported. Low grade mosaicism for trisomy-21 (3/350 cells) was confirmed in the mother in one of the families but not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c12fa268731a1eaafd3675d1176048ef
https://pubmed.ncbi.nlm.nih.gov/8629809
https://pubmed.ncbi.nlm.nih.gov/8629809
Autor:
H. Kandil, S. A. Al-Awadi, T. I. Farag, D. S. Krishna Murthy, L. A. Jeryan, K. Al-Nagdy, A. A. Redha, M. El-Ghanem, R. Usha
Publikováno v:
Indian journal of pediatrics. 61(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::865764a6211247e954633ac03a1c68b3
https://pubmed.ncbi.nlm.nih.gov/7960007
https://pubmed.ncbi.nlm.nih.gov/7960007
Publikováno v:
Annales de genetique. 36(3)
A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bd90056da5aa5ad58ea7304cd432925
https://pubmed.ncbi.nlm.nih.gov/8117067
https://pubmed.ncbi.nlm.nih.gov/8117067
Publikováno v:
Journal of medical genetics. 27(12)
Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However, clinical and radiological features in these boys are d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::504612f03757a23c69ec2732087ac13a
https://pubmed.ncbi.nlm.nih.gov/2074559
https://pubmed.ncbi.nlm.nih.gov/2074559
Publikováno v:
Indian journal of experimental biology. 28(6)
The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a9471bb7ca211d02e8d6d62077e11991
https://pubmed.ncbi.nlm.nih.gov/2144840
https://pubmed.ncbi.nlm.nih.gov/2144840