Search Results - "Hellani, Ali M"

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation by Abu-Amero, Khaled K, Hellani, Ali M, Salih, Mustafa A, Seidahmed, Mohammad Z, Elmalik, Tageldin S, Zidan, Ghassan, Bosley, Thomas M

“…Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism…”
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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 diagnosis by Mohamed, Sarar, Elkholy, Susan, El-Meleagy, Ebtessam, Abu-Amero, Khaled, Hellani, Ali M

“…The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited…”
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Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome by Abu-Amero, Khaled K., Kondkar, Altaf, Hellani, Ali M., Oystreck, Darren T., Khan, Arif O., Bosley, Thomas M.

“…Abstract Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism…”
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Neurologic injury in isolated sulfite oxidase deficiency by Bosley, Thomas M, Alorainy, Ibrahim A, Oystreck, Darren T, Hellani, Ali M, Seidahmed, Mohammed Z, Osman, Mohamed El Faki, Sabry, Mohamed A, Rashed, Mohamed S, Al-Yamani, Eiman A, Abu-Amero, Khaled K, Salih, Mustafa A

“…We review clinical, neuroimaging, and genetic information on six individuals with isolated sulfite oxidase deficiency (ISOD). All patients were examined, and…”
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Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome by Abu-Amero, Khaled K., Kondkar, Altaf A., Al Otaibi, Abdullah, Alorainy, Ibrahim A., Khan, Arif O., Hellani, Ali M., Oystreck, Darren T., Bosley, Thomas M.

“…Abstract Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism,…”
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Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder by Abu-Amero, Khaled K, Kondkar, Altaf A, Hellani, Ali M, Bosley, Thomas M, Khan, Arif O

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High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus by Abu-Amero, Khaled K, Hellani, Ali M, Al Mansouri, Sameer M, Kalantan, Hatem, Al-Muammar, Abdulrahman M

“…To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of…”
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Successful pregnancies after combined human leukocyte antigen direct genotyping and preimplantation genetic diagnosis utilizing multiple displacement amplification by Hellani, Ali M, Akoum, Siham M, Fadel, Elias S, Yousef, Hisham M, Abu-Amero, Khaled K

“…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…”
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Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency by Salih, Mustafa A, Bosley, Thomas M, Alorainy, Ibrahim A, Sabry, Mohamed A, Rashed, Mohamed S, Al-Yamani, Eiman A, El-Akoum, Siham, Mohamed, Sarar H, Abu-Amero, Khaled K, Hellani, Ali M

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Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8 by Abu-Amero, Khaled K., Kondkar, Altaf A., Salih, Mustafa A., Al-Husain, Muneera, Al Shammari, Muneera, Zeidan, Ghassan, Oystreck, Darren T., Hellani, Ali M., Kentab, Amal Y., Bosley, Thomas M.

“…Abstract Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic…”
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Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations by Abu-Amero, Khaled K., Faletra, Flavio, Gasparini, Paolo, Parentin, Fulvio, Pensiero, Stefano, Alorainy, Ibrahim A., Hellani, Ali M., Catalano, Dario, Bosley, Thomas M.

“…Background: To describe clinical and genetic observations in a patient with horizontal gaze palsy and progressive scoliosis (HGPPS) without identified…”
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A new era for preventive genetic programs in the Arabian Peninsula by Al-Odaib, Ali N, Abu-Amero, Khaled K, Ozand, Pinar T, Al-Hellani, Ali M

“…In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based…”
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Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family by Owaidah, Tarek M, Al-Saleh, Mahasen M, Al-Hellani, Ali M

“…The present report describes the clinical, hematological and molecular characteristics in a family with unique interaction between 3 different mutations…”
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Recently available techniques applicable to genetic problems in the Middle East by Ozand, Pinar T, Odaib, Ali Al, Sakati, Nadia, Al-Hellani, Ali M

“…In this paper, we address the preventive health aspects of genetic problems in the Middle East and provide guidelines to prioritize preventive strategies…”
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Lateral dislocation of the elbow joint in children: a case report by Missaoui, Zied, Moussa, Mohamad K., Pouzenc, Lucas, Hellani, Ali A., Alayane, Ali

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Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome by Abu-Amero, Khaled K., Kondkar, Altaf, Hellani, Ali M., Oystreck, Darren T., Khan, Arif O., Bosley, Thomas M.

“…Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism. Materials…”
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Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome by Abu-Amero, Khaled K., Kondkar, Altaf A., Al Otaibi, Abdullah, Alorainy, Ibrahim A., Khan, Arif O., Hellani, Ali M., Oystreck, Darren T., Bosley, Thomas M.

“…Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white…”
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Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8 by Abu-Amero, Khaled K., Kondkar, Altaf A., Salih, Mustafa A., Al-Husain, Muneera, Al Shammari, Muneera, Zeidan, Ghassan, Oystreck, Darren T., Hellani, Ali M., Kentab, Amal Y., Bosley, Thomas M.

“…Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features…”
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