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1. 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
Available evidence suggests that congenital and genetic disorders are responsible for a major proportion of infant mortality, morbidity, and handicap in Arab... 
Pregnancy | Genetic disorders | Countries | Medical genetics | Practice | Children | Genetic diseases | Genetic services | Population genetics | Human genetics | Genetic screening | 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
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2. 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 Maroofian, Reza and Rajab, Anna and Stark, Zornitza and Hunter, Jill V and Bakey, Zeineb and Tokita, Mari J and He, Weimin and Vetrini, Francesco and Petersen, Andrea and Santoni, Federico A and Hamamy, Hanan and Wu, Kaman and Al‐Jasmi, Fatma and Helmstädter, Martin and Arnold, Sebastian J and Xia, Fan and Richmond, Christopher and Liu, Pengfei and Karimiani, Ehsan Ghayoor and Karami Madani, GholamReza and Lunke, Sebastian and El‐Shanti, Hatem and Eng, Christine M and Antonarakis, Stylianos E and Hertecant, Jozef and Walkiewicz, Magdalena and Yang, Yaping and Schmidts, Miriam
Human Mutation, ISSN 1059-7794, 03/2019, Volume 40, Issue 3, pp. 267 - 280
Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes.... 
early endosome | endo‐lysosome | storage disease | neurodevelopmental syndrome | PPP1R21 | endo-lysosome | PP1 | RAB5 | GENETICS & HEREDITY | PP2A | MUTATIONS | SNX14 CAUSE | CATHEPSIN-D DEFICIENCY | 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 | Alleles | Proteomics | Fibroblasts | Localization | Index Medicus | Rapid Communications | Rapid Communication
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3. 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
The United Arab Emirates inhabitants are ethnically diverse, with ancestries from Arabia, Persia, Baluchistan, and Africa. However, the majority of the current... 
dysmorphology | Database | UAE | Arab | Dysmorphology | VAN-CREVELD-SYNDROME | AUTOSOMAL RECESSIVE SYNDROME | MULTIPLE EPIPHYSEAL DYSPLASIA | CORPUS-CALLOSUM AGENESIS | CONSANGUINEOUS MARRIAGES | GENETICS & HEREDITY | MAL-DE-MELEDA | WOLCOTT-RALLISON-SYNDROME | CYSTIC-FIBROSIS | GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY | JUNCTIONAL EPIDERMOLYSIS-BULLOSA | 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
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4. 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
Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping... 
SYSTEM | HENNEKAM-SYNDROME | ZEBRAFISH | MENTAL-RETARDATION | HEREDITARY LYMPHEDEMA | GENETICS & HEREDITY | LYMPHANGIOGENESIS | TRANSCRIPTION FACTOR | LYMPHANGIECTASIA | 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
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5. 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
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | CCBE1 | MODIFIER | MENTAL-RETARDATION | ABNORMALITIES | GENETICS & HEREDITY | DCHS1 | CYSTIC-FIBROSIS | LYMPHEDEMA | LYMPHANGIECTASIA | 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
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6. 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
GENETICS & HEREDITY | Neurodevelopmental disorders
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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 syndrome is a heterogeneous rare type of skeletal dysplasia with a prevalence of less than 1 in 1,000,000 individuals. It is characterized by... 
Desbuquois dysplasia (DBQD) | XYLT1 (xylosyltransferase) | autosomal recessive | skeletal dysplasia | GENETICS & HEREDITY | PATIENT | MUTATIONS | VARIANT | 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 Kantarci, Sibel and Al-Gazali, Lihadh and Hill, R Sean and Donnai, Dian and Black, Graeme C. M and Bieth, Eric and Chassaing, Nicolas and Lacombe, Didier and Devriendt, Koen and Teebi, Ahmad and Loscertales, Maria and Robson, Caroline and Liu, Tianming and MacLaughlin, David T and Noonan, Kristin M and Russell, Meaghan K and Walsh, Christopher A and Donahoe, Patricia K and Pober, Barbara R
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 957 - 959
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies,... 
DIAPHRAGMATIC-HERNIA | SONIC HEDGEHOG | MYOPIA | GENETICS & HEREDITY | HYPOPLASIA | PROTEINURIA | ANIMAL-MODEL | DEAFNESS | MICE | HYPERTELORISM | RETINOL | 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 | Cell receptors | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Kidney diseases | Brain | Genetics | Chromosomes | Developmental disabilities
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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
ATROPHY | MUTATION | GENETICS & HEREDITY | HUMANS | VLDLR | QUADRUPEDAL LOCOMOTION | CEREBELLAR HYPOPLASIA | 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
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10. 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
The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we... 
SPINAL SENSORY NEURONS | OF-FUNCTION MUTATION | NA(V)1.7 SODIUM-CHANNELS | ALPHA-SUBUNIT | MULTIDISCIPLINARY SCIENCES | INDIFFERENCE | CLOSED-STATE INACTIVATION | DORSAL-ROOT GANGLIA | ERYTHERMALGIA | EXPRESSION | INSENSITIVITY | 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
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11. Full Text 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
by Abdelrahman, Hanadi A and Al‐Shamsi, Aisha and John, Anne and Hertecant, Jozef and Lootah, Ali and Ali, Bassam R and Al‐Gazali, Lihadh
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1996 - 2003
Non‐immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to nonimmune causes.... 
exome sequencing reanalysis | haemangioma | thrombospondin 1 domain containing protein 1 | nonimmune hydrops fetalis | congenital heart defects | ETIOLOGY | GENETICS & HEREDITY | INTRACRANIAL ANEURYSM | IDENTIFICATION | Computational Biology - methods | Genetic Association Studies | Thrombospondins - genetics | Hydrops Fetalis - diagnosis | Humans | Child, Preschool | Genotype | Infant | Male | Hemangioma - diagnosis | Sequence Analysis, DNA | Syndrome | Whole Exome Sequencing | Heart Defects, Congenital - genetics | Hydrops Fetalis - genetics | DNA Mutational Analysis | Alleles | Female | Heart Defects, Congenital - diagnosis | Consanguinity | Mutation | Hemangioma - genetics | Dropsy | Edema | Hemangioma | Congenital heart disease | Genetic disorders | Genes | Heart | Neonates | Phenotypes | Fetuses | Heredity | Lethality | Gene deletion | Embryos | Proteins | Clonal deletion | Intestine | Hydrops fetalis | Malabsorption | Children | Ascites | Peritoneum | Thrombospondin | Structure-function relationships
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12. Full Text Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
by Martinez, Fernando Jose and Lee, Jeong Ho and Lee, Ji Eun and Blanco, Sandra and Nickerson, Elizabeth and Gabriel, Stacey and Frye, Michaela and Al-Gazali, Lihadh and Gleeson, Joseph G
Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 380 - 385
BackgroundDubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation,... 
METHYLTRANSFERASE MISU NSUN2 | RNA | GENETICS & HEREDITY | Eczema - genetics | Microcephaly - genetics | Humans | Methyltransferases - genetics | Male | United Arab Emirates | Sequence Analysis, DNA | Intellectual Disability - genetics | Exome | RNA Splicing | Animals | Pedigree | Facies | Female | Mutation | Growth Disorders - genetics | Dubowitz syndrome | RNA sequencing | Usage | Gene mutations | Exome sequencing | Genetic aspects | Research | Microcephaly | Genes | Cell cycle | Eczema | Cell division | Genomes | Kinases | Defects | microcephaly | Dubowitz | MISU | NSUN2 | RNA methylation
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13. Full Text Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
by Makrythanasis, Periklis and Nelis, Mari and Santoni, Federico A and Guipponi, Michel and Vannier, Anne and Béna, Frédérique and Gimelli, Stefania and Stathaki, Elisavet and Temtamy, Samia and Mégarbané, André and Masri, Amira and Aglan, Mona S and Zaki, Maha S and Bottani, Armand and Fokstuen, Siv and Gwanmesia, Lorraine and Aliferis, Konstantinos and Bustamante Eduardo, Mariana and Stamoulis, Georgios and Psoni, Stavroula and Kitsiou‐Tzeli, Sofia and Fryssira, Helen and Kanavakis, Emmanouil and Al‐Allawi, Nasir and Sefiani, Abdelaziz and Al Hait, Sana' and Elalaoui, Siham C and Jalkh, Nadine and Al‐Gazali, Lihadh and Al‐Jasmi, Fatma and Bouhamed, Habiba Chaabouni and Abdalla, Ebtesam and Cooper, David N and Hamamy, Hanan and Antonarakis, Stylianos E
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1203 - 1210
ABSTRACT Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic... 
exome sequencing | high‐throughput sequencing | consanguinity | homozygosity mapping | Consanguinity | Homozygosity mapping | High-throughput sequencing | Exome sequencing | DEFECTS | VARIANTS | MUSCULAR-DYSTROPHY | DYSPLASIA | DELETION | GENOMES | DISEASE | GENETICS & HEREDITY | HYPOPLASIA | SPECTRUM | high-throughput sequencing | NONSENSE MUTATION | Rare Diseases - genetics | Genes, Recessive - genetics | Humans | Rare Diseases - diagnosis | Arabs | Child, Preschool | Infant | Male | Sequence Analysis, DNA | Exome | Young Adult | Pedigree | Adolescent | Adult | Female | Child | Genetic research | Cytogenetics | Family | Genetic aspects | Genotype & phenotype | Genetic disorders | Genetic testing | Mutation
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