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humans (7) 7
index medicus (7) 7
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analysis (1) 1
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1. Full Text The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | CHARGE | GENETICS & HEREDITY | KABUKI SYNDROMES | Reproducibility of Results | Genetic Testing | Humans | Molecular Sequence Annotation | Male | Genetic Diseases, Inborn - epidemiology | Sequence Analysis, DNA | Morbidity | Exome | Homozygote | Phenotype | Female | Consanguinity | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genetic Diseases, Inborn - diagnosis | Saudi Arabia - epidemiology | Medical colleges | Neural cell adhesion molecule | DSCAM protein | Dementia disorders | Population studies | Heredity | Dishevelled protein | Siblings | Original Investigation
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2. Full Text Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
by Alazami, Anas M and Al‐Owain, Mohammad and Alzahrani, Fatema and Shuaib, Taghreed and Al‐Shamrani, Hussain and Al‐Falki, Yahya H and Al‐Qahtani, Saleh M and Alsheddi, Tarfa and Colak, Dilek and Alkuraya, Fowzan S
Human Mutation, ISSN 1059-7794, 10/2012, Volume 33, Issue 10, pp. 1429 - 1434
Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including... 
HMGA1 | LARP7 | RN7SK | ncRNA | primordial dwarfism | NcRNA | Primordial dwarfism | DEVELOPMENTAL DISORDER | TRANSCRIPTION | BIALLELIC MUTATIONS | P-TEFB | U4ATAC SNRNA | GENES | GENETICS & HEREDITY | SECKEL-SYNDROME | COMPONENT | MEIER-GORLIN SYNDROME | EXPRESSION | Abnormalities, Multiple - metabolism | Molecular Chaperones - metabolism | RNA, Untranslated - metabolism | Face - abnormalities | Humans | Child, Preschool | Molecular Sequence Data | Male | Intellectual Disability - genetics | Intellectual Disability - metabolism | Young Adult | Dwarfism - metabolism | Base Sequence | Facies | Female | RNA, Untranslated - chemistry | Ribonucleoproteins - genetics | Craniofacial Abnormalities | Child | Abnormalities, Multiple - genetics | Muscular Atrophy - metabolism | Molecular Chaperones - genetics | Genotype | Muscular Atrophy - genetics | Syndrome | Dwarfism - genetics | Pedigree | Adolescent | Mutation | Dwarfism | Medical colleges | Analysis | Genes | DNA | Medical genetics | Antisense RNA | Genetic aspects | Ophthalmology | Genetic transcription | DNA repair
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3. Full Text The alkylglycerol monooxygenase ( AGMO ) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family
by Alrayes, Nuha and Mohamoud, Hussein Sheikh Ali and Ahmed, Saleem and Almramhi, Mona Mohammad and Shuaib, Taghreed Mohammad and Wang, Jun and Al-Aama, Jumana Yousuf and Everett, Kate and Nasir, Jamal and Jelani, Musharraf
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 363, pp. 240 - 244
Abstract Autosomal recessive primary microcephaly (MCPH) refers to a genetically heterogeneous group of neurodevelopmental disorders in which patients exhibit... 
Neurology | Saudi Arabia | Autosomal recessive primary microcephaly | Novel homozygous | Alkylglycerol monooxygenase | Whole exome sequencing | Frameshift deletion mutation | HEREDITARY SPASTIC PARAPLEGIA | DDHD2 | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | DISEASE | TETRAHYDROBIOPTERIN | MUTATIONS | SPECTRUM | SJOGREN-LARSSON SYNDROME | BRAIN | REVEALS | Autistic Disorder - genetics | Amino Acid Sequence | Microcephaly - genetics | Humans | Microcephaly - diagnosis | Male | Intellectual Disability - genetics | Pedigree | Base Sequence | Intellectual Disability - diagnosis | Consanguinity | Mixed Function Oxygenases - genetics | Child | Autism | Genetic aspects | Single nucleotide polymorphisms | Genes | Genomics
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4. Full Text Identification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype
by Al-Owain, Mohammed and Al-Dosari, Mohammed S and Sunker, Asma and Shuaib, Taghreed and Alkuraya, Fowzan S
Gene, ISSN 0378-1119, 12/2012, Volume 511, Issue 2, pp. 447 - 450
Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning, which may lead to spontaneous or... 
ZNF469 | Ehlers–Danlos syndrome type VI | Corneal fragility | Scoliosis | Joint hypermobility | Ehlers-Danlos syndrome type VI | BRITTLE CORNEA SYNDROME | GENE | BLUE SCLERA | PRDM5 | GENETICS & HEREDITY | THICKNESS | Young Adult | Ehlers-Danlos Syndrome - genetics | Phenotype | Pedigree | Humans | Adolescent | Adult | Female | Male | Mutation | Transcription Factors - genetics | Genes | Genetic aspects | Cornea | Phenylketonuria | Ehlers-Danlos syndrome | deoxypyridinoline | pyridinoline | Exons | Rupture | Arachnodactyly | Hearing loss | Eye | Thinning | Skin | Joints | Siblings
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5. Full Text Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII
by Kaya, Namik and Aldhalaan, Hesham and Al‐Younes, Banan and Colak, Dilek and Shuaib, Taghreed and Al‐Mohaileb, Fahad and Al‐Sugair, Abdulaziz and Nester, Michael and Al‐Yamani, Suad and Al‐Bakheet, Albandary and Al‐Hashmi, Nadia and Al‐Sayed, Moeen and Meyer, Brian and Jungbluth, Heinz and Al‐Owain, Mohammed
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 12/2011, Volume 156, Issue 7, pp. 826 - 834
We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation... 
mental retardation | cerebellar ataxia | CA8 | and dysequilibrium syndrome | carbonic anhydrase VIII | Carbonic anhydrase VIII | Mental retardation | Cerebellar ataxia | And dysequilibrium syndrome | PROTEIN | PSYCHIATRY | GENETICS & HEREDITY | HYPOPLASIA | HUMANS | LIPOPROTEIN RECEPTOR GENE | QUADRUPEDAL LOCOMOTION | Brain - diagnostic imaging | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Positron-Emission Tomography | Young Adult | DNA Mutational Analysis | Base Sequence | Cerebellar Ataxia - diagnostic imaging | Female | Cerebellar Ataxia - enzymology | Child | Infant, Newborn | Amino Acid Sequence | Genetic Predisposition to Disease | Gene Regulatory Networks - genetics | Cerebellar Ataxia - pathology | Mutation - genetics | Magnetic Resonance Imaging | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Brain - pathology | Biomarkers, Tumor - genetics | Biomarkers, Tumor - chemistry | Cerebellum | Brain | Temporal lobe | Cognitive ability | Cortex | Substantia alba | Magnetic resonance imaging | gait | Carbonate dehydratase | Differential diagnosis | Mutation | Positron emission tomography | Cortex (temporal) | Linkage analysis
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6. Full Text Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia
by Al-Hashmi, Nadia and Imtiaz, Faiqa and Ramzan, Khushnooda and Faden, Maha and Shuaib, Taghreed and Al-Otaibi, Lefian and Al-Hemidan, Amal and Al-Owain, Mohammed
Clinical Dysmorphology, ISSN 0962-8827, 01/2013, Volume 22, Issue 1, pp. 39 - 41
COLLAGEN | GENETICS & HEREDITY | CARTILAGE | Abnormalities, Multiple - pathology | Hyaline Membrane Disease - pathology | RNA Splice Sites - genetics | Exons | Face - abnormalities | Face - pathology | Humans | Hyaline Membrane Disease - genetics | Child, Preschool | Cleft Palate - genetics | Genetic Testing - methods | Collagen Type II - genetics | Dwarfism - genetics | Osteochondrodysplasias | DNA Mutational Analysis | Cleft Palate - pathology | Collagen Diseases | Physical Examination | Female | Dwarfism - pathology | Mutation | Genome, Human | Abnormalities, Multiple - genetics
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7. Full Text Propionic Acidemia Associated With Visual Hallucinations
by Shuaib, Taghreed and Al-Hashmi, Nadia and Ghaziuddin, Mohammad and Megdad, Eman and Abebe, Dejene and Al-Saif, Amr and Doubi, Alaa and Aldhalaan, Hesham and Abouzied, Mohei Eldin and Al-Owain, Mohammed
6/2012, Volume 27, Issue 6, 5
Propionic acidemia, an autosomal recessive disorder, is a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase. It is... 
hyperammonemia | propionic acidemia | seizure | organic aciduria | visual hallucination | hypoglycemia | DISORDERS | SYMPTOMS | CLINICAL NEUROLOGY | METABOLISM | DISEASE | ACIDURIA | PEDIATRICS | ALPHA-MANNOSIDOSIS | Hallucinations - genetics | Propionic Acidemia - diagnostic imaging | Humans | Male | Propionic Acidemia - genetics | Electroencephalography | Positron-Emission Tomography | Mutation - genetics | Hallucinations - complications | Hallucinations - diagnostic imaging | DNA Mutational Analysis | Adolescent | Diffusion Magnetic Resonance Imaging | Fluorodeoxyglucose F18 | Propionic Acidemia - complications | Methylmalonyl-CoA Decarboxylase - genetics | Child | Neuroimaging | Brain | Basal ganglia | EEG | Propionyl-CoA carboxylase | aciduria | Hereditary diseases | Magnetic resonance imaging | Hallucinations | Children | Metabolic acidosis | Seizures
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