Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Fatma, Bastaki"'
Autor:
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by muta
Externí odkaz:
https://doaj.org/article/e9f9b479dd284f109db6422496b298c8
Autor:
Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Publikováno v:
Oman Journal of Ophthalmology, Vol 10, Iss 3, Pp 228-231 (2017)
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made bas
Externí odkaz:
https://doaj.org/article/93b58fbfbe594dd8877cda4ff3f29037
Publikováno v:
J Pediatr Genet
Glycine encephalopathy (GE), also known as nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder due to a primary defect in the glycine cleavage enzyme system. It is characterized by elevated levels of glycine in the plasma and cerebros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad1c932bea5b1f05050c0221c3dd60f8
https://doi.org/10.1055/s-0041-1729741
https://doi.org/10.1055/s-0041-1729741
Publikováno v:
European Journal of Medical Genetics. 60:541-547
Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea280663bb5ab7b9ceae9bcfb7f37cd
https://doi.org/10.1016/j.ejmg.2017.07.014
https://doi.org/10.1016/j.ejmg.2017.07.014
Autor:
Fatima Saif, Mahmoud Taleb Al-Ali, Sami Bizzari, Ethar Mustafa Malik, Pratibha Nair, Madiha Mohamed, Fatma Bastaki, Sana Hamici, Abdul Rezzak Hamzeh
Publikováno v:
Annals of Human Genetics. 82:35-47
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a4cc2b4d067db73a373c36ecd8263f
https://doi.org/10.1111/ahg.12220
https://doi.org/10.1111/ahg.12220
Publikováno v:
Journal of Pediatrics & Neonatal Care. 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91ddd8280b94707161f7099f81ac461a
https://doi.org/10.15406/jpnc.2019.09.00367
https://doi.org/10.15406/jpnc.2019.09.00367
Autor:
Madiha Mohamed, Fatma Bastaki, Nafisa Tawfiq, Pratibha Nair, Fatima Saif, Abdul Rezzak Hamzeh, Mahmoud Taleb Al-Ali, Manal Mustafa Khadora
Publikováno v:
Hormone Research in Paediatrics. 87:64-68
Background/Aims: This study aimed to identify, clinically and molecularly, the causality of Rabson-Mendenhall syndrome in an Emirati family. It is one of the monogenic syndromes of abnormal glucose homeostasis, which result from insulin receptor defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2580b53e5962e2632d1a2dd2eff602e
https://doi.org/10.1159/000447090
https://doi.org/10.1159/000447090
Autor:
Fatma Bastaki, Nafisa Tawfiq, Abdul Rezzak Hamzeh, Mahmoud Taleb Al-Ali, Madiha Mohamed, Fatima Saif, Pratibha Nair, Majdi El Halik
Publikováno v:
American Journal of Medical Genetics Part A. 170:2127-2132
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd4e2e090c70317d98c58c5165349bb
https://doi.org/10.1002/ajmg.a.37766
https://doi.org/10.1002/ajmg.a.37766
Publikováno v:
European journal of medical genetics. 63(1)
Pontocerebellar Hypoplasia type 1 is a rare heterogeneous neurodegenerative disorder with multiple subtypes linked to dysfunction of the exosome complex. Patients with mutations in exosome subunits exhibit a generally lethal phenotype characterized b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcabb8f12c4a7c3261da1abc6525856b
https://pubmed.ncbi.nlm.nih.gov/30690203
https://pubmed.ncbi.nlm.nih.gov/30690203
Autor:
Abdul Rezzak Hamzeh, Pratibha Nair, Fatma Bastaki, Majdi El-Halik, Madiha Mohamed, Fatima Saif, Mahmoud Taleb Al-Ali, Nafisa Tawfiq, Gururaj Aithala
Publikováno v:
Congenital Anomalies. 56:135-137
The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83431c4d7dbb7f94bb7bfa1ad0e27483
https://doi.org/10.1111/cga.12144
https://doi.org/10.1111/cga.12144