- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
2020/10/15 by Gianina Ravenscroft, Gina Ravenscroft, Joshua S. Clayton +29 · 25 citations
Medicine · Neuroscience · #Arthrogryposis #Arthrogryposis multiplex congenita #Bioinformatics #Biology #Cerebral Palsy and Movement Disorders #Exome #Exome sequencing #Gene #Genetics #Genome #Genomics #Hereditary Neurological Disorders #Medical genetics #Mutation #Neurogenetic and Muscular Disorders Research #Phenotype #Proband
- The nature of nurture: Effects of parental genotypes
2018/01/25 by Augustine Kong, Guðmar Þorleifsson, Michael L. Frigge +12 · 1 citation
Biochemistry, Genetics and Molecular Biology · Psychology · #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #RNA modifications and cancer #Nature versus nurture #Proband #Educational attainment #Allele #Genetics #Biology #Genotype #Affect (linguistics) #Developmental psychology #Psychology #Gene #Mutation
- Novel pathogenic ACAN variants in non-syndromic short stature patients
2017/04/07 by Xuyun Hu, Baoheng Gui, Jiasun Su +17 · 21 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Bone health and treatments #Cohort #Connective tissue disorders research #Dysplasia #Endocrinology #Gene #Genetics #Internal medicine #Medicine #Mutation #Pediatrics #Proband #Short stature #Ubiquitin and proteasome pathways
- Executive functioning and local‐global visual processing: candidate endophenotypes for autism spectrum disorder?
2016/11/02 by Lien Van Eylen, Bart Boets, Nele Cosemans +4 · 17 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · Psychology · #Audiology #Autism #Autism Spectrum Disorder Research #Autism spectrum disorder #Clinical psychology #Cognition #Cognitive flexibility #Developmental psychology #Endophenotype #Fluency #Genetics #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Medicine #Mutation #Neurocognitive #Neuropsychology #Pervasive developmental disorder #Proband #Psychiatry #Psychology
- Premature mortality in autism spectrum disorder
2015/11/06 by Tatja Hirvikoski, Ellenor Mittendorfer‐Rutz, Ellenor Mittendorfer-Rutz +4 · 54 citations
Medicine · Neuroscience · Psychology · #Autism #Autism Spectrum Disorder Research #Autism spectrum disorder #Child Nutrition and Feeding Issues #Cohort #Demography #Down syndrome and intellectual disability research #Internal medicine #Medicine #Odds ratio #Pediatrics #Population #Proband #Psychiatry #Psychology #Residence
- A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
2014/02/27 by Sébastien Jacquemont, Bradley P. Coe, Bradley P. Coe +11 · 29 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Autism #Autism Spectrum Disorder Research #Autism spectrum disorder #Biology #Cohort #Copy-number variation #Etiology #Gene #Genetics #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Internal medicine #Medicine #Mutation #Neurodevelopmental disorder #Proband #Psychiatry
- X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
2013/09/18 by Sun Young Cho, Ching-wan Lam, Ching‐Wan Lam +3 · 13 citations
Medicine · #Allele #Biology #Endocrinology #Gene #Genetics #Glycogen #Glycogen Storage Diseases and Myoclonus #Glycogen storage disease #Internal medicine #Medicine #Molecular biology #Moyamoya disease diagnosis and treatment #Mutant #Mutation #Proband #Sanger sequencing #Skewed X-inactivation #Sympathectomy and Hyperhidrosis Treatments #X chromosome #X-inactivation
- Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
2013/04/18 by Marta Futema, Ros Whittall, Ros A. Whittall +10 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Apolipoprotein B #Biology #Cholesterol #Diabetes, Cardiovascular Risks, and Lipoproteins #Familial hypercholesterolemia #Gastroenterology #Gene #Genetics #Genomics and Rare Diseases #Internal medicine #LDL receptor #Lipoprotein #Lipoproteins and Cardiovascular Health #Medicine #Mutation #PCSK9 #Proband #Triglyceride
- A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
2012/05/01 by Mark J. Rieder, Mark J. Rieder, Glenn E. Green +32 · 27 citations
Biochemistry, Genetics and Molecular Biology · Dentistry · #Biology #Craniofacial Disorders and Treatments #DLX5 #Exome sequencing #Gene #Genetics #Haploinsufficiency #Homeobox #Homeotic gene #Missense mutation #Mutation #Noggin #Oral and Maxillofacial Pathology #Phenotype #Proband #Transcription factor #dental development and anomalies
- Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
2012/04/01 by Hanan E. Shamseldin, Hanan E Shamseldin, Muneera Alshammari +12 · 32 citations
Biochemistry, Genetics and Molecular Biology · Energy · Neuroscience · #Biology #Candidate gene #Exome #Exome sequencing #Gene #Genetics #Metalloenzymes and iron-sulfur proteins #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial disease #Mutation #Neurological diseases and metabolism #Proband
- Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
2009/07/17 by Alberta A. H. J. Thiadens, Alberta A.H.J. Thiadens, Anneke I. den Hollander +18 · 2 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Biochemistry #Biology #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Mutation #Olfactory and Sensory Function Studies #Proband #Retinal #Retinal Development and Disorders #Visual phototransduction
- Meta-analytic Evidence for Familial Coaggregation of Schizophrenia and Bipolar Disorder
2009/07/01 by Jared X. Van Snellenberg, Teresa de Candia · 2 citations
Medicine · Psychology · #Schizophrenia research and treatment #Bipolar Disorder and Treatment #Family Caregiving in Mental Illness #Proband #Schizophrenia (object-oriented programming) #Bipolar disorder #PsycINFO #Odds ratio #Psychiatry #Meta-analysis #Psychology #Clinical psychology #Medicine #MEDLINE #Internal medicine #Genetics #Mood #Biology #Mutation
- Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities
2007/06/11 by Carla Marini, Davide Mei, Teresa Temudo +18 · 25 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Epilepsy #Epilepsy research and treatment #Epilepsy syndromes #Exon #Gene #Genetics #Genomics and Rare Diseases #Glycogen Storage Diseases and Myoclonus #Medicine #Missense mutation #Multiplex ligation-dependent probe amplification #Mutation #Myoclonic epilepsy #Proband #Psychiatry
- Novel Mitochondrial DNA Length Variants and Genetic Instability in a Family with Diabetes and Deafness
2006/05/17 by George M. C. Janssen, Axel Neu, Leen M. ‘t Hart +2 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #RNA modifications and cancer #Heteroplasmy #Mitochondrial DNA #Point mutation #Genetics #Biology #Proband #Mutation #Intergenic region #Molecular biology #Gene #Genome
- Cerebrotendinous Xanthomatosis
2005/09/01 by Matthew T. Lorincz, Shirley Rainier, Donald Thomas +2 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Psychology · #Biology #Cataracts #Cerebrotendinous Xanthomatosis #Cholesterol #Cholesterol and Lipid Metabolism #Compound heterozygosity #Developmental psychology #Genetics #Hormonal Regulation and Hypertension #Internal medicine #Medicine #Mutation #Ophthalmology #Pediatrics #Proband #Psychology #Sibling #Steroid Chemistry and Biochemistry
- A novel nonsense apolipoprotein A-I mutation (apoA-IE136X) causes low HDL cholesterol in French Canadians
2005/07/15 by Zari Dastani, Carole Dangoisse, Betsie Boucher +8 · 1 citation
Medicine · #Apolipoprotein B #Biology #Cholesterol #Cholesterol and Lipid Metabolism #Diabetes, Cardiovascular Risks, and Lipoproteins #Endocrinology #Gene #Genetics #Internal medicine #Lipoproteins and Cardiovascular Health #Medicine #Missense mutation #Mutation #Nonsense mutation #Population #Proband
- Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population
2003/12/17 by Kiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cleft Lip and Palate Research #Craniofacial Disorders and Treatments #Congenital Ear and Nasal Anomalies #Transmission disequilibrium test #Haplotype #Single-nucleotide polymorphism #Glutamate decarboxylase #Linkage disequilibrium #Genetics #Population #Biology #Allele #Proband #Locus (genetics) #Allele frequency #Genotype #Gene #Medicine #Mutation #Enzyme #Biochemistry
- Risk factors for heart disease associated with abnormal sidedness
2002/10/23 by Karen S. Kuehl, Karen Kuehl, Christopher Loffredo +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Assisted Reproductive Technology and Twin Pregnancy #Biology #Cardiology #Case-control study #Congenital Heart Disease Studies #Congenital heart defects research #Genetics #Heart disease #Heterotaxy #Internal medicine #Medicine #Monozygotic twin #Odds ratio #Pediatrics #Population #Proband #Risk factor
- Familial Transmission of Substance Use Disorders
1998/11/01 by Kathleen R. Merikangas, Marilyn Stolar, Denise E. Stevens +11 · 31 citations
Medicine · Neuroscience · Psychology · #Alcohol #Alcohol use disorder #Cannabis #Clinical psychology #Disease #Drug #Family aggregation #Family history #First-degree relatives #Genetics #Internal medicine #Medicine #Neurotransmitter Receptor Influence on Behavior #Opioid Use Disorder Treatment #Proband #Psychiatry #Psychology #Risk factor #Spouse #Substance Abuse Treatment and Outcomes #Substance abuse
- Autoimmunity to tropomyosin isoforms in ulcerative colitis (UC) patients and unaffected relatives
1998/08/01 by Luigi Biancone, Giovanni Monteleone, R. Marasco +1 · 2 citations
Medicine · #Celiac Disease Research and Management #Monoclonal and Polyclonal Antibodies Research #Systemic Lupus Erythematosus Research #Immunology #Autoimmunity #Ulcerative colitis #Antibody #Autoantibody #Autoimmune disease #Medicine #Proband #Inflammatory bowel disease #Immunoglobulin G #Biology #Internal medicine #Disease #Gene #Genetics
- Racial Differences in Sleep-Disordered Breathing in African-Americans and Caucasians
1997/01/01 by Susan Redline, P V Tishler, Mark G. Hans +3 · 6 citations
Medicine · Neuroscience · #Apnea #Body mass index #Demography #Diet and metabolism studies #Diet, Metabolism, and Disease #Internal medicine #Medicine #Neuroscience of respiration and sleep #Obesity #Odds ratio #Pediatrics #Polysomnography #Proband #Respiratory disturbance index #Sleep apnea
- Apolipoprotein E1 Lys-146 → Glu with type III hyperlipoproteinemia
1992/09/01 by Kengo Moriyama, Jun Sasaki, Akira Matsunaga +5 · 2 citations
Chemistry · Medicine · #Advanced Proteomics Techniques and Applications #Apolipoprotein B #Apolipoprotein E #Biochemistry #Biology #Chemistry #Cholesterol #Diabetes, Cardiovascular Risks, and Lipoproteins #Enzyme #Gene #Gene isoform #Internal medicine #Isoelectric focusing #Lipoproteins and Cardiovascular Health #Molecular biology #Mutagenesis #Mutation #Proband
- The different patterns of the photoparoxysmal response — a genetic study
1992/08/01 by S. Waltz, Stephan Waltz, H.-J. Christen +2 · 15 citations
Medicine · Neuroscience · #Audiology #Biology #Circadian rhythm and melatonin #Epilepsy #Generalized epilepsy #Genetics #Medicine #Mutation #Neuroscience and Neuropharmacology Research #Photoreceptor and optogenetics research #Proband #Psychiatry #Trait
- Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
1992/02/01 by Hanns‐Georg Klein, P Lohse, P. Haydn Pritchard +3 · 1 citation
Medicine · Chemistry · #Cholesterol and Lipid Metabolism #Lipoproteins and Cardiovascular Health #Blood Coagulation and Thrombosis Mechanisms #Sterol O-acyltransferase #Lecithin #Cholesterol #Internal medicine #Endocrinology #Cholesteryl ester #Proband #Chemistry #Biology #Mutation #Lipoprotein #Biochemistry #Medicine #Gene
- Familial granulomatous synovitis, uveitis, and cranial neuropathies
1985/05/01 by Douglas A. Jabs, John L. Houk, J.Lawrence Houk +3 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Anti-nuclear antibody #Antibody #Arthritis #Brother #Dermatology #Family history #Genetics #Immunology #Inflammasome and immune disorders #Medicine #Ocular Diseases and Behçet’s Syndrome #Pathology #Proband #Rheumatoid factor #Sarcoidosis and Beryllium Toxicity Research #Sibling #Surgery
- Steam turbines : theory and design / Zoeb Husain
1984/01/01 by Joseph Biederman, J. Biederman, Carter R. Petty +12 · 14 citations
Energy · Engineering · Medicine · Psychology · #Advanced Power Generation Technologies #Anxiety #Anxiety disorder #Attention Deficit Hyperactivity Disorder #Attention deficit hyperactivity disorder #Child and Adolescent Psychosocial and Emotional Development #Clinical psychology #Comorbidity #Computer science #Conduct disorder #Engineering #Infant Development and Preterm Care #Medicine #Proband #Psychiatry #Psychology #Psychosocial #Renewable energy and sustainable power systems
- Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2
1982/11/01 by Jan L. Breslow, Vassilis I. Zannis, Thomas R. Sangiacomo +3 · 2 citations
Medicine · #Lipid metabolism and disorders #Diabetes, Cardiovascular Risks, and Lipoproteins #Lipoproteins and Cardiovascular Health #Apolipoprotein E #Phenotype #Allele #Proband #Very low-density lipoprotein #Genetics #Lipoprotein #Cholesterol #Biology #Internal medicine #Endocrinology #Medicine #Gene #Mutation #Disease