[HTML][HTML] A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
KK Abu-Amero, AM Hellani, MA Salih… - BMC Medical …, 2010 - Springer
Background Previous studies focusing on candidate genes and chromosomal regions
identified several copy number variations (CNVs) associated with increased risk of autism or …
identified several copy number variations (CNVs) associated with increased risk of autism or …
[HTML][HTML] High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus
KK Abu-Amero, AM Hellani, SM Al Mansouri… - Molecular …, 2011 - ncbi.nlm.nih.gov
Purpose To determine whether patients with sporadic, non-familial keratoconus and no
pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of …
pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of …
Neurologic injury in isolated sulfite oxidase deficiency
…, IA Alorainy, DT Oystreck, AM Hellani… - Canadian Journal of …, 2014 - cambridge.org
Background:We review clinical, neuroimaging, and genetic information on six individuals
with isolated sulfite oxidase deficiency (ISOD).Methods:All patients were examined, and …
with isolated sulfite oxidase deficiency (ISOD).Methods:All patients were examined, and …
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency
…, SH Mohamed, KK Abu-Amero, AM Hellani - Canadian journal of …, 2013 - cambridge.org
Master layout sheet Page 1 Isolated sulfite oxidase deficiency (ISOD; OMIM 272300) is an
autosomal recessive disorder characterized clinically by neonatal onset of intractable seizures …
autosomal recessive disorder characterized clinically by neonatal onset of intractable seizures …
Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome
…, A Al Otaibi, IA Alorainy, AO Khan, AM Hellani… - Ophthalmic …, 2015 - Taylor & Francis
Background: To evaluate possible monogenic and chromosomal anomalies in a patient
with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter …
with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter …
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations
…, S Pensiero, IA Alorainy, AM Hellani… - Ophthalmic …, 2011 - Taylor & Francis
Background: To describe clinical and genetic observations in a patient with horizontal gaze
palsy and progressive scoliosis (HGPPS) without identified mutations in the ROBO3 gene. …
palsy and progressive scoliosis (HGPPS) without identified mutations in the ROBO3 gene. …
Nicotinic receptor mutation in a mildly dysmorphic girl with Duane retraction syndrome
KK Abu-Amero, A Kondkar, AM Hellani… - Ophthalmic …, 2015 - Taylor & Francis
Background: To evaluate possible monogenic and chromosomal anomalies in a patient
with unilateral Duane retraction syndrome and modest dysmorphism. Materials and Methods: …
with unilateral Duane retraction syndrome and modest dysmorphism. Materials and Methods: …
Successful pregnancies after combined human leukocyte antigen direct genotyping and preimplantation genetic diagnosis utilizing multiple displacement …
AM Hellani, SM Akoum, ES Fadel, HM Yousef… - Saudi medical …, 2012 - europepmc.org
Objective To devise a new and simple technique to help select normal embryos that are
human leukocyte antigen (HLA) matched to their affected siblings for diseases, such as beta-…
human leukocyte antigen (HLA) matched to their affected siblings for diseases, such as beta-…
Ophthalmologic observations in a patient with partial mosaic trisomy 8
…, G Zeidan, DT Oystreck, AM Hellani… - Ophthalmic …, 2013 - Taylor & Francis
Background: To carefully assess the phenotype and genotype of a patient with partial mosaic
trisomy 8 with particular attention to ophthalmologic features. Methods: Ophthalmologic …
trisomy 8 with particular attention to ophthalmologic features. Methods: Ophthalmologic …
Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the …
…, E El-Meleagy, K Abu-Amero, AM Hellani - Annals of Saudi …, 2014 - annsaudimed.net
BACKGROUND AND OBJECTIVES : The prevalence of maturity-onset diabetes of the
young (MODY) in Saudi population remains unknown, and data on molecular etiology of this …
young (MODY) in Saudi population remains unknown, and data on molecular etiology of this …
