Works by Hamzeh, Abdul Rezzak

Results: 20

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference.

Published in:

2016

By:

Nair, Pratibha;
Bizzari, Sami;
Rajah, Nirmal;
Assaf, Nada;
Taleb Al-Ali, Mahmoud;
Rezzak Hamzeh, Abdul;
Al-Ali, Mahmoud Taleb;
Hamzeh, Abdul Rezzak

Publication type:

journal article

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Published in:

2017

By:

Nair, Pratibha;
Hamzeh, Abdul Rezzak;
Malik, Ethar Mustafa;
Oberoi, Darshjit;
Al-Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

Case Study

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Published in:

Annals of Human Genetics, 2018, v. 82, n. 1, p. 35, doi. 10.1111/ahg.12220

By:

Bastaki, Fatma;
Bizzari, Sami;
Hamici, Sana;
Nair, Pratibha;
Mohamed, Madiha;
Saif, Fatima;
Malik, Ethar Mustafa;
Al‐Ali, Mahmoud Taleb;
Hamzeh, Abdul Rezzak

Publication type:

Article

Novel splice-site mutation in WDR 62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Published in:

Congenital Anomalies, 2016, v. 56, n. 3, p. 135, doi. 10.1111/cga.12144

By:

Bastaki, Fatma;
Mohamed, Madiha;
Nair, Pratibha;
Saif, Fatima;
Tawfiq, Nafisa;
Aithala, Gururaj;
El-Halik, Majdi;
Al-Ali, Mahmoud;
Hamzeh, Abdul Rezzak

Publication type:

Article

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

Published in:

2017

By:

Hamzeh, abdul Rezzak;
Nair, Pratibha;
Mohamed, Madiha;
Saif, Fatima;
Tawfiq, Nafisa;
Khalifa, Mohamed;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Published in:

International Journal of Dermatology, 2017, v. 56, n. 5, p. 514, doi. 10.1111/ijd.13568

By:

Bastaki, Fatma;
Mohamed, Madiha;
Nair, Pratibha;
Saif, Fatima;
Mustafa, Ethar M.;
Bizzari, Sami;
Al‐Ali, Mahmoud T.;
Hamzeh, Abdul Rezzak

Publication type:

Article

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Published in:

Pediatrics International, 2017, v. 59, n. 1, p. 113, doi. 10.1111/ped.13158

By:

Bizzari, Sami;
Hamzeh, Abdul Rezzak;
Nair, Pratibha;
Mohamed, Madiha;
Bastaki, Fatma

Publication type:

Article

Melanin Concentrating Hormone Signaling Deficits in Schizophrenia: Association With Memory and Social Impairments and Abnormal Sensorimotor Gating.

Published in:

International Journal of Neuropsychopharmacology, 2020, v. 23, n. 1, p. 53, doi. 10.1093/ijnp/pyz051

By:

Vawter, Marquis P;
Schulmann, Anton;
Alhassen, Lamees;
Alhassen, Wedad;
Hamzeh, Abdul Rezzak;
Sakr, Jasmine;
Pauluk, Lucas;
Yoshimura, Ryan;
Wang, Xuejie;
Dai, Qi;
Sanathara, Nayna;
Civelli, Olivier;
Alachkar, Amal

Publication type:

Article

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report.

Published in:

2017

By:

Bastaki, Fatma;
Nair, Pratibha;
Mohamed, Madiha;
Malik, Ethar Mustafa;
Helmi, Mustafa;
Al-Ali, Mahmoud Taleb;
Hamzeh, Abdul Rezzak

Publication type:

Case Study

Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 637, doi. 10.1002/humu.22530

By:

Fortina, Paolo;
Khaja, Najib Al;
Ali, Mahmoud Taleb Al;
Hamzeh, Abdul Rezzak;
Nair, Pratibha;
Innocenti, Federico;
Patrinos, George P.;
Kricka, Larry J.

Publication type:

Article

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

Published in:

2017

By:

Hamzeh, Abdul Rezzak;
Saif, Fatima;
Nair, Pratibha;
Binjab, Asma Jassim;
Mohamed, Madiha;
Al-Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1.

Published in:

Science Immunology, 2020, v. 5, n. 49, p. 1, doi. 10.1126/sciimmunol.abc9492

By:

Howson, Lauren J.;
Awad, Wael;
von Borstel, Anouk;
Lim, Hui Jing;
McWilliam, Hamish E. G.;
Sandoval-Romero, Maria L.;
Majumdar, Shamik;
Hamzeh, Abdul Rezzak;
Andrews, Thomas D.;
McDermott, David H.;
Murphy, Philip M.;
Le Nours, Jérôme;
Mak, Jeffrey Y. W.;
Liu, Ligong;
Fairlie, David P.;
McCluskey, James;
Villadangos, Jose A.;
Cook, Matthew C.;
Turner, Stephen J.;
Davey, Martin S.

Publication type:

Article

Meta-analyses of the association of HLA- DRB1 alleles with rheumatoid arthritis among Arabs.

Published in:

International Journal of Rheumatic Diseases, 2017, v. 20, n. 7, p. 832, doi. 10.1111/1756-185X.12922

By:

Bizzari, Sami;
Nair, Pratibha;
Al Ali, Mahmoud Taleb;
Hamzeh, Abdul Rezzak

Publication type:

Article

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.

Published in:

2016

By:

Bastaki, Fatma;
Saif, Fatima;
Al Ali, Mahmoud T.;
Hamzeh, Abdul Rezzak

Publication type:

Case Study

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Published in:

Hormone Research in Paediatrics, 2017, v. 87, n. 1, p. 64, doi. 10.1159/000447090

By:

Bastaki, Fatma;
Nair, Pratibha;
Mohamed, Madiha;
Khadora, Manal Mustafa;
Saif, Fatima;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Hamzeh, abdul Rezzak

Publication type:

Article

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2127, doi. 10.1002/ajmg.a.37766

By:

Nair, Pratibha;
Hamzeh, Abdul Rezzak;
Mohamed, Madiha;
Saif, Fatima;
Tawfiq, Nafisa;
El Halik, Majdi;
Al‐Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

Article

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.

Published in:

2016

By:

Nair, Pratibha;
Hamzeh, abdul Rezzak;
Mohamed, Madiha;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

No association between Val158Met of the COMT gene and susceptibility to schizophrenia in the Syrian population.

Published in:

North American Journal of Medical Sciences, 2011, v. 3, n. 4, p. 176, doi. 10.4297/najms.2011.3176

By:

Lajin, Bassam;
Alachkar, Amal;
Hamzeh, Abdul Rezzak;
Michati, Roula;
Alhaj, Hamid

Publication type:

Article

Multidrug resistance in Pseudomonas aeruginosa isolated from nosocomial respiratory and urinary infections in Aleppo, Syria.

Published in:

Journal of Infection in Developing Countries, 2015, v. 9, n. 2, p. 210, doi. 10.3855/jidc.5643

By:

Mahfoud, Maysa;
Al Najjar, Mona;
Hamzeh, Abdul Rezzak

Publication type:

Article

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 3, p. 869, doi. 10.1007/s11011-018-0200-z

By:

Obeid, Tasneem;
Hamzeh, Abdul Rezzak;
Saif, Fatima;
Nair, Pratibha;
Mohamed, Madiha;
Al-Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

Article