Search Results - "El Ruby, M"

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis by El-Kamah, G.Y., Fong, K., El-Ruby, M., Afifi, H.H., Clements, S.E., Lai-Cheong, J.E., Amr, K., El-Darouti, M., McGrath, J.A.

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Detection and putative effect of GATA4 gene variants in patients with congenital cardiac septal defects by Al-Azzouny, M A, El Ruby, M O, Issa, H A, Behiry, E G, Elsayed, N R, Fayez, A G

“…The zinc finger transcription factor GATA4, located on chromosome 8p23.1-p22, has been implicated as a critical regulator of cardiac development during…”
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Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome by El-Bassyouni, H T, El-Gerzawy, A, Eid, O, El-Ruby, M O

“…We report on a female with Turner syndrome phenotype and an isodicentric Y chromosome 46, X, idicYq a combination which has to the best of our knowledge not…”
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Screening of genital anomalies in newborns and infants in two egyptian governorates by Mazen, I, El-Ruby, M, Kamal, R, El-Nekhely, I, El-Ghandour, M, Tantawy, S, El-Gammal, M

“…External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great…”
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Growth charts of Egyptian children with Down syndrome (0-36 months) by Meguid, N A, El-Kotoury, A I S, Abdel-Salam, G M H, El-Ruby, M O, Afifi, H H

“…A study established growth and growth velocity curves for weight, length and head circumference in 350 Egyptian Down syndrome children (188 males and 162…”
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Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development by Mazen, I M, Kamel, A K, Mohamed, A M, Hussien, H A, Essawi, M L, Hassan, H A, El-Ruby, M O, Aref, A, Mekkawy, M K

“…Ovotesticular disorder of sexual development (OT-DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same…”
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Terminal 2q deletion and partial trisomy chromosome 15q: a clinical and cytogenetic study by El-Bassyouni, H T, El-Gerzawy, A M S, Mohamed, A M, Kamel, A K, Hussein, H A, Thomas, M M, El-Ruby, M

“…We report on a 5 years old female patient with a karyotype 46, XX, add (2), t(2;15) (q37;q22) associated with dysmorphic facial features, digital deformities,…”
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Bartsocas-Papas syndrome with variable expressivity in an Egyptian family by Zaki, M S, Kamel, A K, Effat, L K, El-Ruby, M O

“…Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death,…”
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Phenotypic and cytogenetic spectrum of 9p trisomy by Temtamy, S A, Kamel, A K, Ismail, S, Helmy, N A, Aglan, M S, El Gammal, M, El Ruby, M, Mohamed, A M

“…Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. The spectrum of clinical severity in trisomy 9 roughly…”
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Emanuel syndrome due to unusual segregation of paternal origin by Zaki, M S, Mohamed, A M, Kamel, A K, El-Gerzawy, A M S, El-Ruby, M O

“…Emanuel syndrome is an inherited chromosomal abnormality resulting from 3:1 meiotic segregation from parental balanced translocation carrier t(11;22)(q23;q11),…”
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The most encountered groups of genetic disorders in Giza Governorate, Egypt by Afifi, H H, El-Ruby, M O, El-Bassyouni, H T, Ismail, S I, Aglan, M S, El-Harouni, A A, Mazen, I M, Zaki, M S, Bassiouni, R I, Hosny, L A, El-Kamah, G Y, El-Kotoury, A I, Ashour, A M, Abdel-Salam, G M, El-Gammal, M A, Hamed, K, Kamal, R M, El-Nekhely, I, Temtamy, S A

“…This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained…”
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Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome by El-Ruby, M, Hemly, N A, Zaki, M S

“…We describe an 8-years old female with supernumerary chromosome der(21)t(4;21)(q25;q22) resulting in partial trisomy 4q25-qter and partial trisomy…”
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Ring chromosome 15: expanding the phenotype by Eid, M M, El-Bassyouni, H T, Eid, O M, Hamad, S A, Elgerzawy, A, Zaki, M S, El-Ruby, M

“…Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a…”
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A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION by Eid, M O, Eid, M M, Kamel, A K, El-Ruby, M, Abdel-Salam, G M H

“…Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and…”
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Spectrum of mutations in the ANTXR2 ( CMG2 ) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis: Correspondence by El-Kamah, G.Y., Fong, K., El-Ruby, M., Afifi, H.H., Clements, S.E., Lai-Cheong, J.E., Amr, K., El-Darouti, M., McGrath, J.A.

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New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects by Fayez, Alaaeldin G., Esmaiel, Nora N., Ashaat, Engy A., Refeat, Miral M., Lotfy, Randa S., Raouf, Haiam Abdel, El Ruby, Mona O.

“…عيوب القلب الوعائية وراثية بشكل كبير وحوالي ثلث عيوب القلب الخلقية ناتجة عن عيوب القلب الوعائية. باستخدام التحليل اللاحق لعيوب القلب المخروطية -بيانات دراسة…”
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Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes by Zaki, M S, Kamel, A A, El-Ruby, M

“…The co-occurrence of two numerical chromosomal abnormalities in same individual (double aneuploidy) is relatively rare and its clinical presentations are…”
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Advantages and disadvantages of scleral (haptic and corneal) contact lenses by el-Ruby, A M

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Clinical indications of contact lenses by el-Ruby, A M

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Problems of the prosthesis by el-Ruby, A M

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