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Wyszukujesz frazę ""Hamzeh AR"" wg kryterium: Autor


Tytuł :
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.
Autorzy :
Hamzeh AR; John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Andrews TD; John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Field MA; John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia. .; Centre for Tropical Bioinformatics and Molecular Biology, Australian Institute of Tropical Health and Medicine, James Cook University, Cairns, QLD, Australia. .
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Źródło :
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2243, pp. 1-25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Diseases, Inborn/*genetics
Genetic Variation/*genetics
Genome, Human/*genetics
Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Genomics/methods ; Humans ; Whole Genome Sequencing/methods
Czasopismo naukowe
Tytuł :
Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1 .
Autorzy :
Howson LJ; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia. .
Awad W; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.; Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
von Borstel A; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Lim HJ; Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
McWilliam HEG; Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
Sandoval-Romero ML; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Majumdar S; Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Hamzeh AR; Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.; Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Andrews TD; Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.; Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
McDermott DH; Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Murphy PM; Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Le Nours J; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.; Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
Mak JYW; Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
Liu L; Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
Fairlie DP; Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.; ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
McCluskey J; Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
Villadangos JA; Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
Cook MC; Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.; Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Turner SJ; Department of Microbiology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Davey MS; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Ojaimi S; Department of Infectious Diseases, Monash Health, Clayton, Victoria, Australia.; Centre for Inflammatory Diseases, Monash University, Clayton, Victoria, Australia.; Department of Allergy and Immunology, Monash Health, Clayton, Victoria, Australia.
Rossjohn J; Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia. .; Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.; Institute of Infection and Immunity, Cardiff University School of Medicine, Heath Park, Cardiff, UK.
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Źródło :
Science immunology [Sci Immunol] 2020 Jul 24; Vol. 5 (49).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Melanin Concentrating Hormone Signaling Deficits in Schizophrenia: Association With Memory and Social Impairments and Abnormal Sensorimotor Gating.
Autorzy :
Vawter MP; Department of Psychiatry and Human Behavior, School of Medicine, University of California, Irvine, CA.
Schulmann A; Department of Psychiatry and Human Behavior, School of Medicine, University of California, Irvine, CA.; Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA.
Alhassen L; Department of Psychiatry and Human Behavior, School of Medicine, University of California, Irvine, CA.
Alhassen W; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.; Department of Pharmaceutical Sciences, University of California, Irvine, CA.
Hamzeh AR; John Curtin School of Medical Research, Australian National University, Canberra.
Sakr J; Department of Pharmaceutical Sciences, University of California, Irvine, CA.
Pauluk L; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.
Yoshimura R; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.
Wang X; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.
Dai Q; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.
Sanathara N; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.
Civelli O; Department of Pharmacology, School of Medicine, University of California, Irvine, CA.; Department of Pharmaceutical Sciences, University of California, Irvine, CA.; Department of Developmental and Cell Biology, School of Medicine, University of California, Irvine, CA.
Alachkar A; Department of Pharmaceutical Sciences, University of California, Irvine, CA.
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Źródło :
The international journal of neuropsychopharmacology [Int J Neuropsychopharmacol] 2020 Mar 10; Vol. 23 (1), pp. 53-65.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Hypothalamic Hormones/*metabolism
Melanins/*metabolism
Memory Disorders/*physiopathology
Pituitary Hormones/*metabolism
Prefrontal Cortex/*metabolism
Receptors, Somatostatin/*deficiency
Receptors, Somatostatin/*metabolism
Schizophrenia/*metabolism
Schizophrenia/*physiopathology
Sensory Gating/*physiology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Behavior, Animal/physiology ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Fetus ; Humans ; Infant ; Male ; Memory Disorders/etiology ; Mice ; Mice, Knockout ; Middle Aged ; Schizophrenia/complications ; Young Adult
Czasopismo naukowe
Tytuł :
Expanded PCH1D phenotype linked to EXOSC9 mutation.
Autorzy :
Bizzari S; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. Electronic address: .
Hamzeh AR; John Curtin School of Medical Research, Australian National University, Canberra, ACT, 2600, Australia.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, P.O.Box 4115, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, P.O.Box 4115, Dubai, United Arab Emirates.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Jan; Vol. 63 (1), pp. 103622. Date of Electronic Publication: 2019 Jan 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Cerebellum/*abnormalities
Exosome Multienzyme Ribonuclease Complex/*genetics
Nervous System Malformations/*genetics
Olivopontocerebellar Atrophies/*genetics
RNA-Binding Proteins/*genetics
Brain Stem Neoplasms/genetics ; Brain Stem Neoplasms/pathology ; Cerebellum/pathology ; Child ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Male ; Mutation/genetics ; Nervous System Malformations/pathology ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Olivopontocerebellar Atrophies/pathology ; Phenotype ; Spinal Nerves/pathology
SCR Disease Name :
Cerebellar Hypoplasia; Pontocerebellar Hypoplasia Type 1
Czasopismo naukowe
Tytuł :
Association of Myoinositol Transporters with Schizophrenia and Bipolar Disorder: Evidence from Human and Animal Studies.
Autorzy :
Vawter MP; Department of Psychiatry and Human Behavior, School of Medicine, University of California, Irvine, Irvine, California, USA.
Hamzeh AR; John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Muradyan E; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, California, USA.
Civelli O; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, California, USA.; Department of Pharmaceutical Sciences, School of Medicine, University of California, Irvine, Irvine, California, USA.; Department of Developmental and Cell Biology, School of Medicine, University of California, Irvine, Irvine, California, USA.
Abbott GW; Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, California, USA.
Alachkar A; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, California, USA.; Department of Pharmaceutical Sciences, School of Medicine, University of California, Irvine, Irvine, California, USA.
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Źródło :
Molecular neuropsychiatry [Mol Neuropsychiatry] 2019 Oct; Vol. 5 (4), pp. 200-211. Date of Electronic Publication: 2019 Aug 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
Autorzy :
Obeid T; Department of Applied Biology/ Biotechnology Program, University of Sharjah, College of Sciences, P.O. Box 27272, Sharjah, United Arab Emirates. .
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
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Źródło :
Metabolic brain disease [Metab Brain Dis] 2018 Jun; Vol. 33 (3), pp. 869-873. Date of Electronic Publication: 2018 Feb 11.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carrier Proteins/*genetics
Intellectual Disability/*genetics
Membrane Proteins/*genetics
Muscle Hypotonia/*genetics
Mutation/*genetics
Adolescent ; Epilepsy/genetics ; Facies ; Female ; Homozygote ; Humans ; Muscle Hypotonia/diagnosis ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Prenatal one-carbon metabolism dysregulation programs schizophrenia-like deficits.
Autorzy :
Alachkar A; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Wang L; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Yoshimura R; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Wang Z; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Sanathara N; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Lee SM; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Xu X; Department of Anatomy & Neurobiology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Abbott GW; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.; Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, CA, USA.
Civelli O; Department of Pharmacology, School of Medicine, University of California, Irvine, Irvine, CA, USA.; Department of Pharmaceutical Sciences, School of Medicine, University of California, Irvine, Irvine, CA, USA.; Department of Developmental and Cell Biology, School of Medicine, University of California, Irvine, Irvine, CA, USA.
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Źródło :
Molecular psychiatry [Mol Psychiatry] 2018 Feb; Vol. 23 (2), pp. 282-294. Date of Electronic Publication: 2017 Aug 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Methionine/*metabolism
Schizophrenia/*metabolism
Animals ; Antipsychotic Agents/therapeutic use ; Basic Helix-Loop-Helix Transcription Factors/drug effects ; Basic Helix-Loop-Helix Transcription Factors/genetics ; CA1 Region, Hippocampal/drug effects ; Clozapine/therapeutic use ; Developmental Disabilities/physiopathology ; Disease Models, Animal ; Female ; Folic Acid/metabolism ; Haloperidol/therapeutic use ; Humans ; Male ; Mice ; Neurogenesis ; Neuronal Plasticity ; One-Carbon Group Transferases/metabolism ; Prefrontal Cortex/embryology ; Pregnancy ; Prenatal Exposure Delayed Effects ; Stereotyped Behavior/drug effects ; Tetrahydrofolates
Czasopismo naukowe
Tytuł :
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Autorzy :
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Bizzari S; Centre for Arab Genomic Studies, Dubai, UAE.
Hamici S; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Nair P; Centre for Arab Genomic Studies, Dubai, UAE.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Malik EM; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, UAE.
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Źródło :
Annals of human genetics [Ann Hum Genet] 2018 Jan; Vol. 82 (1), pp. 35-47. Date of Electronic Publication: 2017 Sep 21.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Disorders of Glycosylation/*genetics
Arabs ; Child ; Codon, Nonsense ; DNA Mutational Analysis ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Mutation, Missense ; United Arab Emirates
Czasopismo naukowe
Tytuł :
Novel SPG20 mutation in an extended family with Troyer syndrome.
Autorzy :
Bizzari S; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. .
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Aithala G; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
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Źródło :
Metabolic brain disease [Metab Brain Dis] 2017 Dec; Vol. 32 (6), pp. 2155-2159. Date of Electronic Publication: 2017 Sep 05.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Proteins/*genetics
Spastic Paraplegia, Hereditary/*genetics
Adolescent ; Cell Cycle Proteins ; Child ; Child, Preschool ; Female ; Humans ; Male ; Pedigree
SCR Disease Name :
Spastic paraplegia 20, autosomal recessive
Czasopismo naukowe
Tytuł :
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.
Autorzy :
Nair P; Centre for Arab Genomic Studies, Dubai, UAE.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, UAE.
Malik EM; Department of Pediatric, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Oberoi D; Department of Ophthalmology, Dubai Hospital, Dubai, UAE.
Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE.
Bastaki F; Department of Pediatric, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
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Źródło :
Oman journal of ophthalmology [Oman J Ophthalmol] 2017 Sep-Dec; Vol. 10 (3), pp. 228-231.
Typ publikacji :
Case Reports
Raport
Tytuł :
Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs.
Autorzy :
Bizzari S; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Al Ali MT; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
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Źródło :
International journal of rheumatic diseases [Int J Rheum Dis] 2017 Jul; Vol. 20 (7), pp. 832-838. Date of Electronic Publication: 2016 Jul 14.
Typ publikacji :
Journal Article; Meta-Analysis; Review
MeSH Terms :
Genetic Variation*
Arabs/*genetics
Arthritis, Rheumatoid/*genetics
HLA-DRB1 Chains/*genetics
Arthritis, Rheumatoid/diagnosis ; Arthritis, Rheumatoid/ethnology ; Case-Control Studies ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Odds Ratio ; Phenotype ; Protective Factors ; Risk Assessment ; Risk Factors
Czasopismo naukowe
Tytuł :
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.
Autorzy :
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Malik EM; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Helmi M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. abdul.hamzeh@hmaward.org.ae.
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Źródło :
BMC medical genetics [BMC Med Genet] 2017 Jun 15; Vol. 18 (1), pp. 68. Date of Electronic Publication: 2017 Jun 15.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Frameshift Mutation*
Intellectual Disability/*genetics
Repressor Proteins/*genetics
CCCTC-Binding Factor ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Intellectual Disability/pathology ; Syndrome
Czasopismo naukowe
Tytuł :
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.
Autorzy :
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. abdul.hamzeh@hmaward.org.ae.
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Tawfiq N; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
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Źródło :
Irish journal of medical science [Ir J Med Sci] 2017 May; Vol. 186 (2), pp. 333-337. Date of Electronic Publication: 2016 Feb 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mental Retardation, X-Linked/*genetics
Mutation, Missense/*genetics
alpha-Thalassemia/*genetics
Alleles ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics ; Male
Czasopismo naukowe
Tytuł :
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Autorzy :
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Nair P; Centre for Arab Genomic Studies, Dubai, UAE.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Mustafa EM; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Bizzari S; Centre for Arab Genomic Studies, Dubai, UAE.
Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, UAE.
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Źródło :
International journal of dermatology [Int J Dermatol] 2017 May; Vol. 56 (5), pp. 514-523. Date of Electronic Publication: 2017 Feb 24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
ATP-Binding Cassette Transporters/*genetics
Arabs/*genetics
Arachidonate 12-Lipoxygenase/*genetics
Ichthyosis, Lamellar/*genetics
Transglutaminases/*genetics
Computational Biology ; DNA Mutational Analysis ; Exome ; Female ; Genes, Recessive ; Humans ; INDEL Mutation ; Ichthyosis, Lamellar/ethnology ; Infant ; Infant, Newborn ; Male ; Mutation, Missense ; Pedigree ; United Arab Emirates
Czasopismo naukowe
Tytuł :
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Autorzy :
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. abdul.hamzeh@hmaward.org.ae.
Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Binjab AJ; Pediatrics and Neonatology Department, Dubai Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
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Źródło :
BMC pediatrics [BMC Pediatr] 2017 Jan 19; Vol. 17 (1), pp. 31. Date of Electronic Publication: 2017 Jan 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Base Sequence*
Frameshift Mutation*
Sequence Deletion*
Dwarfism/*genetics
Face/*abnormalities
Genetic Diseases, X-Linked/*genetics
Genitalia, Male/*abnormalities
Guanine Nucleotide Exchange Factors/*genetics
Hand Deformities, Congenital/*genetics
Heart Defects, Congenital/*genetics
Child ; Child, Preschool ; Dwarfism/diagnosis ; Genetic Diseases, X-Linked/diagnosis ; Genetic Markers ; Hand Deformities, Congenital/diagnosis ; Heart Defects, Congenital/diagnosis ; Humans ; Male ; United Arab Emirates
SCR Disease Name :
Aarskog Syndrome
Czasopismo naukowe
Tytuł :
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.
Autorzy :
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Nair P
Mohamed M
Saif F
Tawfiq N
Khalifa M
Al-Ali MT
Bastaki F
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Źródło :
Medical principles and practice : international journal of the Kuwait University, Health Science Centre [Med Princ Pract] 2017; Vol. 26 (2), pp. 195-198. Date of Electronic Publication: 2017 Jan 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*genetics
Metalloendopeptidases/*genetics
Child, Preschool ; Consanguinity ; Humans ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
Autorzy :
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Nair P
Mohamed M
Khadora MM
Saif F
Tawfiq N
Al-Ali MT
Hamzeh AR
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Źródło :
Hormone research in paediatrics [Horm Res Paediatr] 2017; Vol. 87 (1), pp. 64-68. Date of Electronic Publication: 2016 Jun 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Homozygote*
Mutation, Missense*
Antigens, CD/*genetics
Donohue Syndrome/*genetics
Receptor, Insulin/*genetics
Adult ; Amino Acid Substitution ; Child, Preschool ; Family ; Female ; Humans ; Male ; United Arab Emirates
Czasopismo naukowe
Tytuł :
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
Autorzy :
Bizzari S; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
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Źródło :
Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2017 Jan; Vol. 59 (1), pp. 113-114.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
RNA Splice Sites*
Abnormalities, Multiple/*diagnostic imaging
Abnormalities, Multiple/*genetics
Cerebellum/*abnormalities
Eye Abnormalities/*diagnostic imaging
Eye Abnormalities/*genetics
Kidney Diseases, Cystic/*diagnostic imaging
Kidney Diseases, Cystic/*genetics
Membrane Proteins/*genetics
Retina/*abnormalities
Cerebellum/diagnostic imaging ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mutation ; Retina/diagnostic imaging ; United Arab Emirates
SCR Disease Name :
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Tytuł :
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Autorzy :
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE. .
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Malik EM; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE.
Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
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Źródło :
Metabolic brain disease [Metab Brain Dis] 2016 Oct; Vol. 31 (5), pp. 1189-92. Date of Electronic Publication: 2016 May 25.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Severity of Illness Index*
Acidosis/*diagnosis
Acidosis/*genetics
Enoyl-CoA Hydratase/*genetics
Mutation/*genetics
Amino Acid Sequence ; Female ; Humans ; Infant, Newborn ; United Arab Emirates
Czasopismo naukowe

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