Search Results - "Afifi, Hanan H"

Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children by Eissa, Eman, Afifi, Hanan H., Abo-Shanab, Assem M., Thomas, Manal M., Taher, Mohamed B., Kandil, Rania, Kholoussi, Naglaa M.

“…Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is…”
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Expanding the phenotypic spectrum and clinical severity associated with WLS gene by Abdel-Salam, Ghada M H, Afifi, Hanan H, Abdel-Hamid, Mohamed S, Ahmed, Nermeen E B, Taher, Mohamed B, El-Kamah, Ghada, Thiele, Holger, Nürnberg, Peter N, Bolz, Hanno J

“…WLS (Wnt ligand secretion mediator or Wntless) orchestrates the secretion of all Wnt proteins, a family of evolutionary conserved proteins, involved in Wnt…”
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Mutations in ANTXR1 Cause GAPO Syndrome by Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav

“…The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not…”
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Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism by Shaheen, Ranad, Abdel-Salam, Ghada M H, Guy, Michael P., Alomar, Rana, Abdel-Hamid, Mohamed S., Afifi, Hanan H., Ismail, Samira I., Emam, Bayoumi A., Phizicky, Eric M., Alkuraya, Fowzan S.

“…Background Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic…”
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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly by Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia

“…Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical…”
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Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age by Afifi, Hanan H., Aglan, Mona S., Zaki, Moushira E., Thomas, Manal M., Tosson, Angie M.S.

“…The aim of the study was to construct new reference growth charts for weight, length and head circumference of Egyptian children with Down syndrome (DS) from…”
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Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome by Essawi, Mona L, Ismail, Manal F, Afifi, Hanan H, Kobesiy, Maha M, El Kotoury, Ahmed, Barakat, Maged M

“…Background/Purpose Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be…”
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Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients by Sayed-Ahmed, Mohammed M., El-Bassyouni, Hala T., Afifi, Hanan H., Essawi, Mona L., Taher, Mohamed B., Gadelhak, Mohamed I., Zaytoun, Rehab A., Abdelmonem, Ahmed A., Elbagoury, Nagham M.

“…Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large…”
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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration by Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno Jörn

“…WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is…”
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Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study by Afifi, Hanan H, Gaber, Khaled R, Thomas, Manal M, Taher, Mohamed B, Tosson, Angie M S

“…The aim of this study is to evaluate high-risk pregnant females' offspring as regard the presence of any medical condition, hereditary disorder, or major…”
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Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies by Mohammad, Shaimaa Abdelsattar, Abdelaziz, Tougan Taha, Gadelhak, Mohamed I., Afifi, Hanan H., Abdel-Salam, Ghada M. H.

“…Purpose Despite its clinical implications, the MRI features of developmental facial paresis (DFP) were described in a few case reports. This study aims to…”
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Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies by Abdel-Salam, Ghada M.H., Afifi, Hanan H., Saleem, Sahar N., Gadelhak, Mohamed I., El-Serafy, Manar A., Sayed, Inas S.M., Abdel-Hamid, Mohamed S.

“…Introduction: Pathogenic variants in the PIEZO family member 2 (PIEZO2) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal…”
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Lipoid proteinosis: A clinical and molecular study in Egyptian patients by Afifi, Hanan H., Amr, Khalda S., Tosson, Angie M.S., Hassan, Tarak A., Mehrez, Mennat I., El-Kamah, Ghada Y.

“…Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin…”
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Lenz–Majewski syndrome in a patient from Egypt by Afifi, Hanan H., Abdel‐Hamid, Mohamed S., Mehrez, Mennat I., El‐Kamah, Ghada, Abdel‐Salam, Ghada M. H.

“…Lenz–Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in PTDSS1 gene. We report an Egyptian patient who presented…”
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Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma by Eid, Ola M, El Zomor, Hosam, Mohamed, Amal M, El-Bassyouni, Hala T, Afifi, Hanan H, El-Ayadi, Moatasem, Sadek, Sherin H, Hammad, Saida A, Salem, Sherine I, Mahrous, Rana, Fadel, Islam M, Refaat, Khaled, Afifi, Mahmoud A, Shelil, Abdallah E, Ziko, Othman A O, Abdel Azeem, Amira A, El-Haddad, Alaa

“…Retinoblastoma (RB) is the most common primary intraocular malignant tumor in children. RB is mostly caused by biallelic mutations in RB1 and occurs in…”
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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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Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene by Temtamy, Samia A., Männikkö, Minna, Abdel‐Salam, Ghada M.H., Hassan, Nihal A., Ala‐Kokko, Leena, Afifi, Hanan H.

“…Oto‐spondylo‐megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the…”
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Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease by Afifi, Hanan H, Abdel Azeem, Amira A, El-Bassyouni, Hala T, Gheith, Moataz E, Rizk, Akmal, Bateman, J Bronwyn

“…The study establishes the importance of genetic background for the expression of Down syndrome phenotype. To define the ocular manifestations of Down syndrome…”
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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome by Miyake, Noriko, Abdel-Salam, Ghada, Yamagata, Takanori, Eid, Maha M., Osaka, Hitoshi, Okamoto, Nobuhiko, Mohamed, Amal M., Ikeda, Takahiro, Afifi, Hanan H., Piard, Juliette, van Maldergem, Lionel, Mizuguchi, Takeshi, Miyatake, Satoko, Tsurusaki, Yoshinori, Matsumoto, Naomichi

“…Coffin–Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we…”
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De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder by Afifi, Hanan H., Abdel‐Hamid, Mohamed S., Eid, Maha M., Mostafa, Inas S., Abdel‐Salam, Ghada M.H.

“…A 13‐year‐old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid…”
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