Works matching AU Abdel-Salam, Ghada M. H.

Results: 38

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB‐Related Neurodevelopmental Disorders.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 184, doi. 10.1111/cge.14720

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas S. M.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-06857-2

By:

Rafat, Karima;
Abdel-Aleem, Asmaa F.;
Elbendary, Hasnaa M.;
Issa, Mahmoud Y.;
Essawi, Mona L.;
Abdel-Ghafar, Sherif F.;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.

Publication type:

Article

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.

Published in:

Neuroradiology, 2018, v. 60, n. 10, p. 1053, doi. 10.1007/s00234-018-2063-8

By:

Mohammad, Shaimaa Abdelsattar;
Abdelaziz, Tougan Taha;
Gadelhak, Mohamed I.;
Afifi, Hanan H.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246

By:

Otaify, Ghada A.;
Elhossini, Rasha M.;
Abdel‐Ghafar, Sherif F.;
Sayed, Inas M.;
Abdel‐Salam, Ghada M. H.;
Aglan, Mona S.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Delineating the phenotype of PNPLA8‐related mitochondriopathies.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421

By:

Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.;
Abdel‐Ghafar, Sherif F.;
Zaki, Maha S.

Publication type:

Article

A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 356, doi. 10.1111/cge.14357

By:

Abdel‐Salam, Ghada M. H.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 530, doi. 10.1111/cge.14132

By:

Almannai, Mohammed;
Marafi, Dana;
Abdel-Salam, Ghada M. H.;
Zaki, Maha S.;
Duan, Ruizhi;
Calame, Daniel;
Herman, Isabella;
Levesque, Felix;
Elbendary, Hasnaa M.;
Hegazy, Ibrahim;
Chung, Wendy K.;
Kavus, Haluk;
Saeidi, Kolsoum;
Maroofian, Reza;
AlHashim, Aqeela;
Al-Otaibi, Ali;
Madhi, Asma Al;
Abou Al-Seood, Hager M.;
Alasmari, Ali;
Houlden, Henry

Publication type:

Article

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 5, p. 498, doi. 10.1080/13816810.2017.1279184

By:

Ammar, Tamer H. A.;
Ismail, Somaia;
Mansour, Ossama Abd Al-Motaal;
El-Shafey, Mostafa M.;
Doghish, Ahmed S.;
Kamal, Ahmad M.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders.

Published in:

Annals of Neurology, 2006, v. 59, n. 3, p. 527

By:

Enza Maria Valente;
Francesco Brancati;
Jennifer L. Silhavy;
Marco Castori;
Sarah E. Marsh;
Giuseppe Barrano;
Enrico Bertini;
Eugen Boltshauser;
Maha S. Zaki;
Alice Abdel‐Aleem;
Ghada M. H. Abdel‐Salam;
Emanuele Bellacchio;
Roberta Battini;
Robert P. Cruse;
William B. Dobyns;
Kalpathy S. Krishnamoorthy;
Clotilde Lagier‐Tourenne;
Alex Magee;
Ignacio Pascual‐Castroviejo;
Carmelo D. Salpietro

Publication type:

Article

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2

By:

Abdel-Hamid, Mohamed S.;
Sabry, Sahar;
Abdel-Ghafar, Sherif F.;
El-Dessouky, Sara H.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

Association of epilepsy with different groups of microcephaly.

Published in:

2000

By:

Abdel-Salam, Ghada M H;
Halász, Adrienne A;
Czeizel, Andrew E;
Abdel-Salam, G M;
Halász, A A;
Czeizel, A E

Publication type:

journal article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?".

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 12, p. 1618, doi. 10.1002/pd.5804

By:

Abdel‐Salam, Ghada M. H.;
El‐Dessouky, Sara H.;
Aboulghar, Mona M.;
Eid, Maha M.

Publication type:

Article

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Published in:

Prenatal Diagnosis, 2020, v. 40, p. 1578, doi. 10.1002/pd.5818

By:

El‐Dessouky, Sara H.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Ghafar, Sherif F.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Fouad, Mona;
Ahmed, Adel H.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?".

Published in:

Prenatal Diagnosis, 2020, v. 40, p. 1618, doi. 10.1002/pd.5804

By:

Abdel‐Salam, Ghada M. H.;
El‐Dessouky, Sara H.;
Aboulghar, Mona M.;
Eid, Maha M.

Publication type:

Article

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

Published in:

2020

By:

El‐Dessouky, Sara H.;
Aboulghar, Mona M.;
Gaafar, Hassan M.;
Abdella, Rana M.;
Sharaf, Marwa F.;
Ateya, Mohamed I.;
Elarab, Ahmed Ezz;
Zidan, Walaa H.;
Helal, Rania M.;
Aboelsaud, Samah M.;
Eid, Maha M.;
Abdel‐Salam, Ghada M.H.;
El-Dessouky, Sara H;
Abdel-Salam, Ghada M H

Publication type:

journal article

DTYMK is essential for genome integrity and neuronal survival.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0

By:

Vanoevelen, Jo M.;
Bierau, Jörgen;
Grashorn, Janine C.;
Lambrichs, Ellen;
Kamsteeg, Erik-Jan;
Bok, Levinus A.;
Wevers, Ron A.;
van der Knaap, Marjo S.;
Bugiani, Marianna;
Frisk, Junmei Hu;
Colnaghi, Rita;
O'Driscoll, Mark;
Hellebrekers, Debby M. E. I.;
Rodenburg, Richard;
Ferreira, Carlos R.;
Brunner, Han G.;
van den Wijngaard, Arthur;
Abdel-Salam, Ghada M. H.;
Wang, Liya;
Stumpel, Constance T. R. M.

Publication type:

Article

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Published in:

Human Genetics, 2019, v. 138, n. 3, p. 231, doi. 10.1007/s00439-019-01980-3

By:

Shaheen, Ranad;
Tasak, Monika;
Maddirevula, Sateesh;
Abdel-Salam, Ghada M. H.;
Sayed, Inas S. M.;
Alazami, Anas M.;
Al-Sheddi, Tarfa;
Alobeid, Eman;
Phizicky, Eric M.;
Alkuraya, Fowzan S.

Publication type:

Article

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00437-5

By:

Li, Simo;
Takada, Sanami;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.;
Issa, Mahmoud Y.;
Salem, Aida M. S.;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Ohshima, Toshio;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.

Published in:

Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x

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.

Publication type:

Article

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565

By:

Herman, Isabella;
Jolly, Angad;
Du, Haowei;
Dawood, Moez;
Abdel‐Salam, Ghada M. H.;
Marafi, Dana;
Mitani, Tadahiro;
Calame, Daniel G.;
Coban‐Akdemir, Zeynep;
Fatih, Jawid M.;
Hegazy, Ibrahim;
Jhangiani, Shalini N.;
Gibbs, Richard A.;
Pehlivan, Davut;
Posey, Jennifer E.;
Lupski, James R.

Publication type:

Article

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561

By:

Abdel‐Salam, Ghada M. H.;
Duan, Ruizhi;
Abdel‐Hamid, Mohamed S.;
Sayed, Inas S. M.;
Jhangiani, Shalini N.;
Khan, Ziad;
Du, Haowei;
Gibbs, Richard A.;
Posey, Jennifer E.;
Marafi, Dana;
Lupski, James R.

Publication type:

Article

Expanding the KIF4A‐associated phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443

By:

Kalantari, Silvia;
Carlston, Colleen;
Alsaleh, Norah;
Abdel‐Salam, Ghada M. H.;
Alkuraya, Fowzan;
Kato, Mitsuhiro;
Matsumoto, Naomichi;
Miyatake, Satoko;
Yamamoto, Tatsuya;
Fares‐Taie, Lucas;
Rozet, Jean‐Michel;
Chassaing, Nicolas;
Vincent‐Delorme, Catherine;
Kang‐Bellin, Anjeung;
McWalter, Kirsty;
Bupp, Caleb;
Palen, Emily;
Wagner, Monisa D.;
Niceta, Marcello;
Cesario, Claudia

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585

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.

Publication type:

Article

Lenz–Majewski syndrome in a patient from Egypt.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327

By:

Afifi, Hanan H.;
Abdel‐Hamid, Mohamed S.;
Mehrez, Mennat I.;
El‐Kamah, Ghada;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133

By:

Abdel‐Salam, Ghada M. H.;
Mazen, Inas;
Eid, Maha;
Ewida, Nour;
Shaheen, Ranad;
Alkuraya, Fowzan S.

Publication type:

Article

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Samira;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Otaify, Ghada A.;
Issa, Mahmoud Y.;
Abdel‐Kader, Mohamed;
Girgis, Marian;
Aboul‐Ezz, Eman;
Mazen, Inas;
Aglan, Mona S.;
Temtamy, Samia A.

Publication type:

Article

Phenotypic and molecular insights into PQBP1‐related intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479

By:

Abdel‐Salam, Ghada M. H.;
Miyake, Noriko;
Abdel‐Hamid, Mohamed S.;
Sayed, Inas S. M.;
Gadelhak, Mohamed I.;
Ismail, Samira I.;
Aglan, Mona S.;
Afifi, Hanan H.;
Temtamy, Samia A.;
Matsumoto, Naomichi

Publication type:

Article

Warsaw breakage syndrome: Further clinical and genetic delineation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482

By:

Alkhunaizi, Ebba;
Shaheen, Ranad;
Bharti, Sanjay Kumar;
Joseph‐George, Ann M.;
Chong, Karen;
Abdel‐Salam, Ghada M. H.;
Alowain, Mohammed;
Blaser, Susan I.;
Papsin, Blake C.;
Butt, Mohammed;
Hashem, Mais;
Martin, Nicole;
Godoy, Ruth;
Brosh, Robert M.;
Alkuraya, Fowzan S.;
Chitayat, David

Publication type:

Article

Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655

By:

El‐Ruby, Mona;
El‐Din Fayez, Alaa;
El‐Dessouky, Sara H.;
Aglan, Mona S.;
Mazen, Inas;
Ismail, Nora;
Afifi, Hanan H.;
Eid, Maha M.;
Mostafa, Mostafa I.;
Mehrez, Mennat I.;
Khalil, Yasmin;
Zaki, Maha S.;
Gaber, Khaled R.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2133, doi. 10.1002/ajmg.a.37724

By:

Abdel‐Hamid, Mohamed S.;
Ismail, Manal F.;
Darwish, Hebatallh A.;
Effat, Laila K.;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.

Publication type:

Article

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185

By:

Afifi, Hanan H.;
Fukai, Ryoko;
Miyake, Noriko;
Gamal el Din, Amina A.;
Eid, Maha M.;
Eid, Ola M.;
Thomas, Manal M.;
El‐Badry, Tarek H.;
Tosson, Angie M. S.;
Abdel‐Salam, Ghada M. H.;
Matsumoto, Naomichi

Publication type:

Article

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 207, doi. 10.1002/ajmg.a.33777

By:

Abdel-Salam, Ghada M. H.;
Flores-Sarnat, Laura;
El-Ruby, Mona O.;
Parboosingh, Jillian;
Bridge, Peter;
Eid, Maha M.;
El-Badry, Tarek H.;
Effat, Laila;
Curatolo, Paolo;
Temtamy, Samia A.

Publication type:

Article

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Published in:

2022

By:

Elsner, Leonie von;
Chai, Guoliang;
Schneeberger, Pauline E;
Harms, Frederike L;
Casar, Christian;
Qi, Minyue;
Alawi, Malik;
Abdel-Salam, Ghada M H;
Zaki, Maha S;
Arndt, Florian;
Yang, Xiaoxu;
Stanley, Valentina;
Hempel, Maja;
Gleeson, Joseph G;
Kutsche, Kerstin;
von Elsner, Leonie

Publication type:

journal article

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Published in:

International Journal of Developmental Neuroscience, 2025, v. 85, n. 3, p. 1, doi. 10.1002/jdn.70019

By:

Abdel‐Salam, Ghada M. H.;
Eid, Maha;
El‐Serafy, Manar A.;
El‐Sayed, Heba;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p.

Published in:

Middle East Journal of Medical Genetics, 2024, v. 13, n. 1, p. 16, doi. 10.21608/mxe.2024.394588

By:

Eid, Ola M.;
Eid, Maha M.;
Kader, Rania M. Abdel;
Abdel-Salam, Ghada M. H.

Publication type:

Article

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants.

Published in:

Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 1, doi. 10.21608/MXE.2023.283877

By:

Eissa, Noura R.;
Essawi, Mona L.;
Abdel-Salam, Ghada M. H.;
Hassan, Heba A.;
Fateen, Ekram M.;
Temtamy, Samia A.

Publication type:

Article

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829

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

Publication type:

Article