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1. Full Text Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)
by Al‐Gazali, Lihadh and Ali, Bassam R
Human mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. 505 - 520
dysmorphology | Database | UAE | Arab | Dysmorphology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Congenital Abnormalities - epidemiology | Genetic Diseases, Inborn - ethnology | Prevalence | Humans | Genetic Diseases, Inborn - genetics | Genotype | Hematologic Diseases - ethnology | Genetic Diseases, Inborn - epidemiology | Europe - ethnology | Congenital Abnormalities - genetics | Congenital Abnormalities - ethnology | Africa - ethnology | Hematologic Diseases - genetics | Hematologic Diseases - epidemiology | Consanguinity | Mutation | United Arab Emirates - epidemiology | Index Medicus
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2. Full Text Genetic disorders in the Arab world
by Al-Gazali, Lihadh and Hamamy, Hanan and Al-Arrayad, Shaikha
BMJ, ISSN 0959-8138, 10/2006, Volume 333, Issue 7573, pp. 831 - 834
Pregnancy | Genetic disorders | Countries | Medical genetics | Practice | Children | Genetic diseases | Genetic services | Population genetics | Human genetics | Genetic screening | Biological and medical sciences | General aspects | Medical sciences | Genetic Testing | Humans | Prenatal Diagnosis | Genetic Diseases, Inborn - genetics | Arab World | Genetic Diseases, Inborn - epidemiology | Family Practice | Genetic Diseases, Inborn - prevention & control | Pedigree | Female | Preconception Care - methods | Consanguinity | Infant, Newborn | Neonatal Screening - organization & administration | Disability | Disease prevention | Arabs | Mortality | Public health | Index Medicus | Abridged Index Medicus
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3. Full Text Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
by Alders, Mariëlle and Al-Gazali, Lihadh and Cordeiro, Isabelle and Dallapiccola, Bruno and Garavelli, Livia and Tuysuz, Beyhan and Salehi, Faranak and Haagmans, Martin A and Mook, Olaf R and Majoie, Charles B and Mannens, Marcel M and Hennekam, Raoul C
Human genetics, ISSN 0340-6717, 2014, Volume 133, Issue 9, pp. 1161 - 1167
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Joint Instability - genetics | Lymphangiectasis, Intestinal - genetics | Foot Deformities, Congenital - genetics | Intellectual Disability - genetics | Exome | Lymphedema - genetics | Tumor Suppressor Proteins - genetics | Cadherins - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Genetic Linkage | Gene Library | Genotype | Chromosome Mapping | Genital Diseases, Male - genetics | Homozygote | Phenotype | Sequence Analysis, RNA | Hand Deformities, Congenital - genetics | Pedigree | Alleles | Heterozygote | Mutation | Amino Acid Substitution | Calcium-Binding Proteins - genetics | Cohort Studies | Index Medicus
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4. Full Text A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease
by Abdelrahman, Hanadi A and Al‐Shamsi, Aisha M and Ali, Bassam R and Al‐Gazali, Lihadh
Clinical genetics, ISSN 0009-9163, 12/2018, Volume 94, Issue 6, pp. 586 - 587
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurodevelopmental disorders | Index Medicus
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5. Full Text Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
by Rehman, Atteeq U and Najafi, Maryam and Kambouris, Marios and Al-Gazali, Lihadh and Makrythanasis, Periklis and Rad, Abolfazl and Bakey, Z and Wu, K.M and Yang, Yaping and Schmidts, M
Human mutation, ISSN 1059-7794, 2019, Volume 40, Issue 3, pp. 267 - 280
early endosome | endo‐lysosome | storage disease | neurodevelopmental syndrome | PPP1R21 | endo-lysosome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | Fibroblasts - ultrastructure | Endosomes - metabolism | Myelin Sheath - metabolism | Endocytosis | Endosomes - ultrastructure | Adult | Female | Child | Infant, Newborn | Fibroblasts - metabolism | Neurodevelopmental Disorders - pathology | Syndrome | Homozygote | Phosphoprotein Phosphatases - genetics | Pedigree | Alleles | Myelin Sheath - ultrastructure | Transferrin - metabolism | Loss of Function Mutation - genetics | Phosphoprotein Phosphatases - chemistry | Medicine, Experimental | Medical research | Nucleotide sequencing | Genomics | DNA sequencing | Brain | Transferrin | Phenotypes | Immunoprecipitation | Congenital defects | Genomes | Substantia alba | Neurodevelopmental disorders | Corpus callosum | Hereditary diseases | Storage diseases | Proteomics | Fibroblasts | Localization | Index Medicus | Rapid Communications | Rapid Communication
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6. Full Text Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
by Alders, Marielle and Hogan, Benjamin M and Gjini, Evisa and Salehi, Faranak and Al-Gazali, Lihadh and Hennekam, Eric A and Holmberg, Eva E and Mannens, Marcel M. A. M and Mulder, Margot F and Offerhaus, G. Johan A and Prescott, Trine E and Schroor, Eelco J and Verheij, Joke B. G. M and Witte, Merlijn and Zwijnenburg, Petra J and Vikkula, Mikka and Schulte-Merker, Stefan and Hennekam, Raoul C
Nature genetics, ISSN 1061-4036, 2009, Volume 41, Issue 12, pp. 1272 - 1274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Genes, Recessive | Syndrome | Intellectual Disability - genetics | Young Adult | Lymphedema - genetics | Lymphangiectasis - genetics | Phenotype | Animals | Pedigree | Heterozygote | Consanguinity | Mutation | Abnormalities, Multiple - genetics | Chromosome mapping | Usage | Dysplasia | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Human subjects | Zebrafish | Lymphatic system | Index Medicus
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7. Full Text Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
by Al‐Jezawi, Nesreen K and Ali, Bassam R and Al‐Gazali, Lihadh
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1773 - 1781
Desbuquois dysplasia (DBQD) | XYLT1 (xylosyltransferase) | autosomal recessive | skeletal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Physiological aspects | Dysplasia | Codon | Nucleotide sequencing | Nucleotidases | DNA sequencing | Nucleotidase | Enzymes | Femur | Proteoglycans | Calcium | Serine | Protein biosynthesis | Stop codon | Dwarfism | Xylose | Cartilage | Missense mutation | Plasmids | Bone dysplasia | Skeleton | Mutation | Localization | Endoplasmic reticulum
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8. Full Text Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
by Noonan, Kristin M and MacLaughlin, David T and Loscertales, Maria and Robson, Caroline and Walsh, Christopher A and Al-Gazali, Lihadh and Hill, R Sean and Donnai, Dian and Russell, Meaghan K and Bieth, Eric and Devriendt, Koen and Liu, Tianming and Chassaing, Nicolas and Teebi, Ahmad and Pober, Barbara R and Black, Graeme C M and Lacombe, Didier and Donahoe, Patricia K and Kantarci, Sibel
Nature genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 957 - 959
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cell receptors | Miscellaneous | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Agenesis of Corpus Callosum | Humans | Hernia, Diaphragmatic - genetics | Hearing Loss, Sensorineural - genetics | Syndrome | Eye Diseases, Hereditary - genetics | Chromosomes, Human, Pair 2 | Kidney - abnormalities | Family | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Mutation | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Kidney diseases | Brain | Genetics | Chromosomes | Developmental disabilities | Index Medicus
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9. Full Text Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family
by Komara, Makanko and John, Anne and Suleiman, Jehan and Ali, Bassam R and Al‐Gazali, Lihadh
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2016, Volume 170, Issue 2, pp. 540 - 543
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Membrane Proteins - genetics | Humans | Intellectual Disability - pathology | Arabs | Child, Preschool | Hearing Loss, Sensorineural - pathology | Male | Hearing Loss, Sensorineural - genetics | Cerebellar Ataxia - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Intellectual Disability - genetics | Homozygote | Cerebellar Ataxia - genetics | Pedigree | Female | Child | Index Medicus
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10. Full Text Consanguinity and Dysmorphology in Arabs
by Lihadh Al-Gazali and Hanan Hamamy
Human heredity, ISSN 0001-5652, 1/2014, Volume 77, Issue 1/4, pp. 93 - 107
Clinical Genetic Aspects of Consanguinity | Arabs | Consanguinity | Dysmorphology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Middle East - epidemiology | Marriage - statistics & numerical data | Genes, Recessive - genetics | Pedigree | Humans | Genetic Diseases, Inborn - genetics | Arabs - genetics | Genetic Diseases, Inborn - epidemiology | Morphology | Congenital diseases | Index Medicus
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11. Full Text An SCN9A channelopathy causes congenital inability to experience pain
by Reimann, Frank and McHale, Duncan P and Valente, Enza Maria and Jafri, Hussain and Al-Gazali, Lihadh and Gribble, Fiona M and Thornton, Gemma and Gorman, Shaun and Williams, Richard and Wood, John N and Nicholas, Adeline K and Roberts, Emma and Mannan, Jovaria and Springell, Kelly and Woods, C. Geoffrey and Cox, James J and Raashid, Yasmin and Karbani, Gulshan and Hamamy, Henan
Nature, ISSN 0028-0836, 12/2006, Volume 444, Issue 7121, pp. 894 - 898
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Cell Line | Physical Chromosome Mapping | Humans | NAV1.7 Voltage-Gated Sodium Channel | Molecular Sequence Data | Male | Mutation - genetics | Chromosomes, Human, Pair 2 - genetics | Pain Insensitivity, Congenital - genetics | Patch-Clamp Techniques | Phenotype | Pain - genetics | Sodium Channels - chemistry | Pain - physiopathology | Pedigree | Base Sequence | Sodium Channels - metabolism | Female | Sodium Channels - genetics | Pain Insensitivity, Congenital - physiopathology | Quantitative genetics | Neurosciences | Pain | Congenital diseases | Sodium | Neurons | Mutation | Gene expression | Index Medicus
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