Search Results - "Khalil, Dania S"

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature by Morales, Jose, Al-Sharif, Latifa, Khalil, Dania S., Shinwari, Jameela M.A., Bavi, Prashant, Al-Mahrouqi, Rahima A., Al-Rajhi, Ali, Alkuraya, Fowzan S., Meyer, Brian F., Al Tassan, Nada

“…Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and…”
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Parkinson's Disease in Saudi Patients: A Genetic Study by Al-Mubarak, Bashayer R, Bohlega, Saeed A, Alkhairallah, Thamer S, Magrashi, Amna I, AlTurki, Maha I, Khalil, Dania S, AlAbdulaziz, Basma S, Abou Al-Shaar, Hussam, Mustafa, Abeer E, Alyemni, Eman A, Alsaffar, Bashayer A, Tahir, Asma I, Al Tassan, Nada A

“…Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss…”
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families by Bohlega, Saeed A, Al-Mubarak, Bashayer R, Alyemni, Eman A, Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E, Khalil, Dania S, Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I, Al Tassan, Nada A

“…Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration…”
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Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles by Khan, Arif O., MD, Khalil, Dania S., BSc, Al Sharif, Latifa J., BSc, Al-Ghadhfan, Faisal E., MD, Al Tassan, Nada A., PhD

“…Objective To document the genotype for familial congenital fibrosis of the extraocular muscles (CFEOM) with apparent autosomal recessive inheritance. Design…”
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia by Bohlega, Saeed A, Shinwari, Jameela M, Al Sharif, Latifa J, Khalil, Dania S, Alkhairallah, Thamer S, Al Tassan, Nada A

“…Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with…”
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Congential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula by Khan, Arif O., Khalil, Dania S., Al-Tassan, Nada A.

“…Purpose: To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular…”
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Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families by Khan, Arif O, Shinwari, Jameela, Omar, Aisha, Al-Sharif, Latifa, Khalil, Dania S, Alanazi, Mohammed, Al-Amri, Abdullah, Al Tassan, Nada

“…Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability…”
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Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus by Khan, Arif O., Khalil, Dania S., Al-Sharif, Latifa J., Al-Tassan, Nada A.

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Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A by Khan, Arif O, Shinwari, Jameela, Al-Sharif, Latifa, Khalil, Dania S, Al Tassan, Nada

“…To determine the genotype underlying suspected X-linked infantile nystagmus in a family and to correlate genotype with clinical examination in potential female…”
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Homozygous Mutations in ADAMTS10 and ADAMTSI7 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature by Morales, Jose, Al-Sharif, Latifa, Khalil, Dania S, Shinwari, Jameela MA, Bavi, Prashant, Al-Mahrouqi, Rahima A, Al-Rajhi, Ali, Alkuraya, Fowzan S, Meyer, Brian F, Tassan, Nada Al

“…Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and…”
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Parkinson's Disease in Saudi Patients: A Genetic Study: e0135950 by Al-Mubarak, Bashayer R, Bohlega, Saeed A, Alkhairallah, Thamer S, Magrashi, Amna I, AlTurki, Maha I, Khalil, Dania S, AlAbdulaziz, Basma S, Al-Shaar, Hussam Abou, Mustafa, Abeer E, Alyemni, Eman A

“…Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss…”
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Homozygous Mutations in ADAMTS 10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature by MORALES, Jose, AL-SHARIF, Latifa, KHALIL, Dania S, SHINWARI, Jameela M. A, BAVI, Prashant, AL-MAHROUQI, Rahima A, AL-RAJHI, Ali, ALKURAYA, Fowzan S, MEYER, Brian F, NADA AL TASSAN

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Energy Value of Carbohydrate and Lipids with Added Calcium for Growing Mice by Khalil, Dania A, Owens, Fredric N, Hanson, Christa F

“…The caloric contribution of diets supplemented with sucrose, corn oil, or tallow with or without additional calcium was examined using female CD1 weanling…”
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