Abstract is: Professor Lihadh Al-Gazali MBChB MSc FRCP FRCPCH is a professor in clinical genetics and paediatrics. Her main area of interest is identifying new inherited disorders in Arab populations clinically and at the molecular level.
| human | Q5 |
| P646 | Freebase ID | /m/0bf2wgz |
| P496 | ORCID iD | 0000-0003-2029-2218 |
| P166 | award received | L'Oréal-UNESCO Award For Women in Science | Q1786381 |
| P27 | country of citizenship | Iraq | Q796 |
| P108 | employer | United Arab Emirates University | Q1544739 |
| P106 | occupation | researcher | Q1650915 |
| geneticist | Q3126128 | ||
| P21 | sex or gender | female | Q6581072 |
| Q50005842 | A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations. |
| Q40857594 | A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child |
| Q41921015 | A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins |
| Q34151916 | A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts |
| Q37356651 | A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement |
| Q34413832 | A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion |
| Q36380533 | A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance |
| Q34145937 | A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy |
| Q53513559 | A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. |
| Q37005336 | A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract |
| Q35880735 | A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development |
| Q55843608 | A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22 |
| Q31158465 | A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking |
| Q56787155 | A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract |
| Q41929093 | A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy |
| Q57280253 | A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease |
| Q43707344 | A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. |
| Q53100108 | A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. |
| Q90585167 | A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family |
| Q47882123 | A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis |
| Q28278844 | An SCN9A channelopathy causes congenital inability to experience pain |
| Q34704103 | An integrative computational approach for prioritization of genomic variants |
| Q36882049 | Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report |
| Q50356353 | Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. |
| Q56787162 | Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome? |
| Q30366855 | Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. |
| Q73628163 | BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia |
| Q58618785 | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome |
| Q64043763 | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome |
| Q90300509 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function |
| Q24336179 | Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction |
| Q24676633 | CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders |
| Q28115110 | Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication |
| Q48103404 | Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development |
| Q51716429 | Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. |
| Q51312240 | Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. |
| Q53321531 | Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. |
| Q34716622 | Community genetics. Its definition 2010. |
| Q55365525 | Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus. |
| Q45212943 | Consanguinity and dysmorphology in Arabs |
| Q64055125 | Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome |
| Q60933683 | Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice |
| Q42917917 | Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| Q56787145 | Cover Image, Volume 170A, Number 8, August 2016 |
| Q61229865 | DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract |
| Q24655560 | Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux |
| Q38908794 | Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension |
| Q24613358 | Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine |
| Q47839001 | Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome |
| Q28281756 | Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts |
| Q38866192 | Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis |
| Q48957209 | Distinguishing the four genetic causes of Jouberts syndrome-related disorders |
| Q38824410 | Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy |
| Q36615500 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy |
| Q34056160 | Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia |
| Q56787142 | Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II |
| Q48205462 | Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features |
| Q42679961 | Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs |
| Q91265044 | Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities |
| Q47259021 | Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale |
| Q24303601 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus |
| Q48125974 | Expanding the clinical and genetic spectra of NKX6-2-related disorder |
| Q24314605 | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects |
| Q40414661 | Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities |
| Q24317477 | Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis |
| Q56787160 | Genetic Disorders in the United Arab Emirates |
| Q35102661 | Genetic disorders in the Arab world |
| Q43074918 | Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes |
| Q41757658 | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations |
| Q53336425 | Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. |
| Q38934419 | Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features |
| Q34423857 | Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome |
| Q24558242 | High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium |
| Q55982111 | Hypotonia, developmental delay and features of scalp???ear???nipple syndrome in an inbred Arab family |
| Q35967003 | Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population |
| Q50625094 | Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. |
| Q73118940 | Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia |
| Q54298536 | Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome. |
| Q42275110 | In search of triallelism in Bardet-Biedl syndrome |
| Q56787158 | Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? |
| Q24295228 | LINS, a modulator of the WNT signaling pathway, is involved in human cognition |
| Q48284040 | Laboratory life: Scientists of the world speak up for equality |
| Q24532836 | Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. |
| Q27339890 | Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice |
| Q30179391 | METTL23, a transcriptional partner of GABPA, is essential for human cognition |
| Q33534455 | Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates |
| Q36671126 | Mutation spectrum of Joubert syndrome and related disorders among Arabs |
| Q24320350 | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans |
| Q37235765 | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes |
| Q28239026 | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome |
| Q36451472 | Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia |
| Q24651557 | Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies |
| Q24629822 | Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes |
| Q24319369 | Mutations in PYCR1 cause cutis laxa with progeroid features |
| Q24534179 | Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria |
| Q21710711 | Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome |
| Q24669597 | Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome |
| Q34296921 | Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum |
| Q28263536 | Mutations in the pericentrin (PCNT) gene cause primordial dwarfism |
| Q37741152 | Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). |
| Q36438725 | New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation |
| Q42935520 | Normal glycosylation screening does not rule out SRD5A3-CDG. |
| Q43899219 | Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures |
| Q50723440 | Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. |
| Q93025278 | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features |
| Q38652950 | Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises |
| Q47444519 | Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy |
| Q28115510 | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |
| Q89901036 | Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival |
| Q50488360 | Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. |
| Q24338882 | SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder |
| Q29465790 | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| Q29465809 | TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT |
| Q54228124 | The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. |
| Q33832884 | Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients |
| Q30418126 | Using whole-exome sequencing to identify inherited causes of autism |
| Q34274157 | Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome |
| Q64106272 | variants as significant predictors of warfarin dose in Emiratis |
| Arabic (ar / Q13955) | لحاظ الغزالي | wikipedia |
| Lihadh Al-Gazali | wikipedia | |
| Lihadh Al-Gazali | wikipedia | |
| Basque language (eu / Q8752) | Lihadh Al-Gazali | wikipedia |
| Lihadh Al-Gazali | wikipedia | |
| Аль-Газали, Лихад | wikipedia |
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