Search Results - "EFFAT, Laila K"

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations by Abdel-Hamid, Mohamed S., Ismail, Manal F., Darwish, Hebatallh A., Effat, Laila K., Zaki, Maha S., Abdel-Salam, Ghada M. H.

“…Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but…”
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C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population by Hashad, Ingy M, Abdel Rahman, Mohamed F, Abdel-Maksoud, Sahar M, Amr, Khalda S, Effat, Laila K, Shaban, Gamal M, Gad, Mohamed Z

“…The p22phox protein subunit is essential for NADPH oxidase activity. The prevalence of C242T variants of p22phox gene was studied in 101 healthy Egyptian…”
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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights by Abdel‐Hamid, Mohamed S., Abdel‐Ghafar, Sherif F., Ismail, Suzan R., Desouky, Lubna M., Issa, Mahmoud Y., Effat, Laila K., Zaki, Maha S.

“…Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We…”
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X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features by Ahmed, Rania R., Medhat, Amina M., Hamdy, Germine M., Effat, Laila K.E., Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M.H.

“…Introduction: The underlying molecular defects of congenital hydrocephalus are heterogeneous and many isolated forms of hydrocephalus remain unsolved at the…”
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation by Abdel‐Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel‐Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL‐Bassyouni, Hala T., El‐Kamah, Ghada, Effat, Laila K., Eid, Maha, Zaki, Maha S., Temtamy, Samia A., Abdel‐Hamid, Mohamed S.

“…PCNT encodes a large coiled‐ protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II…”
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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder by Abdel‐Salam, Ghada M.H., Miyake, Noriko, Eid, Maha M., Abdel‐Hamid, Mohamed S., Hassan, Nihal A., Eid, Ola M., Effat, Laila K., El‐Badry, Tarek H., El‐Kamah, Ghada Y., El‐Darouti, Mohamed, Matsumoto, Naomichi

“…The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth…”
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A long-term study of bone mineral density in patients with phenylketonuria under diet therapy by Koura, Hala M, Abdallah Ismail, Nagwa, Kamel, Ashraf F, Ahmed, Azza M, Saad-Hussein, Amal, Effat, Laila K

“…Dietary control of classic phenylketonuria (PKU) needs restriction of natural proteins; adequate protein intake is achieved by adding low phenylalanine (phe)…”
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Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria by Abdel-Salam, Ahmed M, Effat, Laila K

“…People with phenylketonuria need to eat a special diet which contains a low level of phenylalanine. Most of these special diets have high protein levels which…”
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Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet by Koura, Hala M, Zaki, Sherif M, Ismail, Nagwa A, Salama, Emad E, El Lebedy, Dalia H, Effat, Laila K

“…Most of phenylketonuria (PKU) develops bone turnover impairment and low bone mineral density (BMD). Measurements of BMD reflect only bone mineral status but not…”
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Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome by Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Saleem, Sahar N., Ahmed, Mahmoud K.H., Issa, Mahmoud, Effat, Laila K., Kayed, Hisham F., Zaki, Maha S., Gaber, Khaled R.

“…We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly…”
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Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy by Al-Ettribi, Ghada M.M., Effat, Laila K., El-Bassyouni, Hala T., Zaki, Maha S., Shanab, Gamila, Karim, Amr M.

“…Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, caused due to defects of the respiratory…”
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Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies by EFFAT, Laila K, EL-HAROUNI, Ashraf A, AMRA, Khalda S, EL-MINISI, Tarik I, MEGUID, Nagwa Abdel, EL-AWADY, Mostafa

“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has…”
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Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome by ABDEL-SALAM, Ghada M. H, ABDEL-HAMID, Mohamed S, SALEEM, Sahar N, AHMED, Mahmoud K. H, ISSA, Mahmoud, EFFAT, Laila K, KAYED, Hisham F, ZAKI, Maha S, GABER, Khaled R

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Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria by Effat, L K, Essawi, M L, Abd El Hamid, M S, Hawari, N, Gad, Y Z

“…The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases…”
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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder by Abdel-Salam, Ghada M.H., Miyake, Noriko, Eid, Maha M., Abdel-Hamid, Mohamed S., Hassan, Nihal A., Eid, Ola M., Effat, Laila K., El-Badry, Tarek H., El-Kamah, Ghada Y., El-Darouti, Mohamed, Matsumoto, Naomichi

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