Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Laila K. Effat"'
Autor:
Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Laila K. Effat, Maha S. Zaki, Lubna M. Desouky, Sherif F. Abdel‐Ghafar, Suzan R. Ismail
Publikováno v:
Clinical Genetics. 98:445-456
Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and 7 with Martsolf. Patients presented with the cha
Autor:
S Shalaby, Lobna Abo-Ali, Mohamad Abdelhamid, Reham Abdelkader Elkhouly, Laila K. Effat, Nadia Elwan, Khalda Sayed, Fathia Assal
Publikováno v:
Zagazig University Medical Journal.
Autor:
Ghada M H Abdel-Salam, Maha M. Eid, Mona Aglan, Mahmoud Y. Issa, Hala T. El-Bassyouni, Laila K. Effat, Ghada El-Kamah, Mohamed S. Abdel-Hamid, Inas S. M. Sayed, Samia A. Temtamy, Maha R. Abouzaid, Samira Ismail, Maha S. Zaki, Hanan H. Afifi, Sherif F. Abdel‐Ghafar
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(6)
PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consang
Autor:
Mona Aglan, Ghada M H Abdel-Salam, Samia A. Temtamy, Tarek Omar, Samira Ismail, Mohamed S. Abdel-Hamid, Laila K. Effat, Maha S. Zaki, Heba Hosny
Publikováno v:
Metabolic Brain Disease. 31:1171-1179
Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been discovered so far. Here, we identified MLC1 and HEPACAM mutations in ten and two patients, respectively. The molecular results included an unreported inframe
Autor:
Laila K. Effat, Mohamed S. Abdel-Hamid, Ghada M H Abdel-Salam, Manal F. Ismail, Maha S. Zaki, Hebatallh A. Darwish
Publikováno v:
American Journal of Medical Genetics Part A. 170:2133-2140
Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. Mutations in the ASPM gene have been identified to be the
Autor:
Mona Aglan, Samia A. Temtamy, Mohamed Abdelhamid, Ghada A. Otaify, Somaia Ismail, Laila K. Effat
Publikováno v:
Middle East Journal of Medical Genetics. 4:7-12
Medical Molecular Genetics, Division of HumanGenetics and Genome Research, Center of ScientificExcellence of Human Genetics, National ResearchCentre, Cairo, EgyptCorrespondence to Mohamed S. Abdel-Hamid, MSc,Department of Medical Molecular Genetics,
Autor:
Sherif F. Abdel‐Ghafar, Hala T. El-Bassyouni, Doaa R. Soliman, Ghada M H Abdel-Salam, Mohamed S. Abdel-Hamid, Laila K. Effat, Maha S. Zaki, Shaimaa Abdelsattar Mohammad
Publikováno v:
Metabolic brain disease. 32(3)
Aicardi-Goutieres syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calc
Autor:
Mahmoud Y. Issa, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Laila K. Effat, Ghada M H Abdel-Salam, Samira Ismail, Mona Aglan, Maha S. Zaki
Publikováno v:
American Journal of Medical Genetics Part A. 161:1875-1881
We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The pat
Autor:
Gamila M. L. Shanab, Ghada M.M. Al-Ettribi, Amr M. Karim, Laila K. Effat, Hala T. El-Bassyouni, Maha S. Zaki
Publikováno v:
Middle East Journal of Medical Genetics. 2:28-37
Autor:
Hisham F. Kayed, Sahar N. Saleem, Mohamed S. Abdel-Hamid, Khaled R. Gaber, Ghada M H Abdel-Salam, Mahmoud Y. Issa, Mahmoud K.H. Ahmed, Maha S. Zaki, Laila K. Effat
Publikováno v:
American Journal of Medical Genetics Part A. :1823-1831
We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead,