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1. Full Text Update on oral-facial-digital syndromes (OFDS)
by Franco, Brunella and Thauvin-Robinet, Christel
Cilia, ISSN 2046-2530, 2016, Volume 5, Issue 1, p. 12
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional... 
Developmental disorders | OFDS | Cilia | Proteins | Physiological aspects | Life Sciences | Human health and pathology
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2. Full Text Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
by Garret, Philippine and Bris, Céline and Procaccio, Vincent and Amati‐Bonneau, Patrizia and Vabres, Pierre and Houcinat, Nada and Tisserant, Emilie and Feillet, François and Bruel, Ange‐Line and Quéré, Virginie and Philippe, Christophe and Sorlin, Arthur and Tran Mau‐Them, Frédéric and Vitobello, Antonio and Costa, Jean‐Marc and Boughalem, Aïcha and Trost, Detlef and Faivre, Laurence and Thauvin‐Robinet, Christel and Duffourd, Yannis
Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2430 - 2443
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed... 
pipeline | mtDNA | ES data | bioinformatics | Leber's optic atrophy | Deafness | Phenotypes | Nucleotide sequence | Optic neuropathy | Genomes | Mitochondrial DNA | Neuropathy | Ataxia | Diagnosis | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing
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3. Full Text Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
by Heide, Solveig, MD and Keren, Boris, MD, PhD and Billette de Villemeur, Thierry, MD, PhD and Chantot-Bastaraud, Sandra, MD and Depienne, Christel, PhD and Nava, Caroline, MD, PhD and Mignot, Cyril, MD, PhD and Jacquette, Aurélia, MD and Fonteneau, Eric and Lejeune, Elodie and Mach, Corinne and Marey, Isabelle, MD and Whalen, Sandra, MD and Lacombe, Didier, MD, PhD and Naudion, Sophie, MD and Rooryck, Caroline, MD, PhD and Toutain, Annick, MD, PhD and Caignec, Cédric Le, MD, PhD and Haye, Damien, MD and Olivier-Faivre, Laurence, MD, PhD and Masurel-Paulet, Alice, MD and Thauvin-Robinet, Christel, MD, PhD and Lesne, Fabien, CRA and Faudet, Anne, CRA and Ville, Dorothée, MD and des Portes, Vincent, MD, PhD and Sanlaville, Damien, MD, PhD and Siffroi, Jean-Pierre, MD, PhD and Moutard, Marie-Laure, MD and Héron, Delphine, MD
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Objective To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we... 
Pediatrics | chromosomal microarray | CNV | corpus callosum | SNP array | agenesis of corpus callosum | dysgenesis of corpus callosum | DIAGNOSIS | 3Q29 MICRODELETION SYNDROME | AGENESIS | PHENOTYPE | PEDIATRICS | DUPLICATION | EXPRESSION | CHILDREN | Prospective Studies | Chromosome Duplication | Humans | Child, Preschool | Male | Zinc Finger E-box-Binding Homeobox 1 - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 3 | Hedgehog Proteins - genetics | Microarray Analysis | Agenesis of Corpus Callosum - genetics | Cell Cycle Proteins - genetics | Adult | Female | Child | Chromosome Deletion | Basic Helix-Loop-Helix Transcription Factors - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 7 | Chromosomes, Human, Pair 19 | Adolescent | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Analysis | Resveratrol
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4. Full Text Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
by Saunier, Chloé and Støve, Svein Isungset and Popp, Bernt and Gérard, Bénédicte and Blenski, Marina and Ahmew, Nicholas and de Bie, Charlotte and Goldenberg, Paula and Isidor, Bertrand and Keren, Boris and Leheup, Bruno and Lampert, Laetitia and Mignot, A and Tezcan, Kamer and Mancini, Grazia and Nava, Caroline and Wasserstein, Melissa and Bruel, Ange-Line and Thevenon, Julien and Masurel, Alice and Duffourd, Yannis and Kuentz, Paul and Huet, Frédéric and Riviere, J.-B and Slegtenhorst, Marjon and Faivre, Laurence and Piton, Amélie and Reis, Ané and Arnesen, Thomas and Thauvin-Robinet, Christel and Zweier, Christiane
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 8, pp. 755 - 764
textabstractN-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10,... 
X‐linked | N‐terminal acetylation | NAA10 | intellectual disability | X-linked | Intellectual disability | N-terminal acetylation | GTPASE ARL3P | COMPLEX | FEMALES | IDENTIFICATION | MISSENSE MUTATIONS | MEMBRANE-PROTEIN SYS1P | GENETICS & HEREDITY | REQUIRES | X-CHROMOSOME INACTIVATION | ACETYLTRANSFERASE | Genetic Predisposition to Disease | Genetic Association Studies | N-Terminal Acetyltransferase A - deficiency | Humans | N-Terminal Acetyltransferase A - chemistry | N-Terminal Acetyltransferase A - genetics | Models, Molecular | Male | Mutation, Missense | Intellectual Disability - genetics | N-Terminal Acetyltransferase E - chemistry | Genes, X-Linked | Pedigree | N-Terminal Acetyltransferase E - deficiency | Germ-Line Mutation | N-Terminal Acetyltransferase E - genetics | Female | Mosaicism | Acetylation | Enzymes | Acetates | Genetic aspects | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Life Sciences | Genetics
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5. Full Text Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis
by Bourgon, Nicolas and Lefebvre, Mathilde and Kuentz, Paul and Thevenon, Julien and Jouan, Thibaud and Duffourd, Yannis and Philippe, Christophe and Tran Mau‐Them, Frédéric and Durand, Christine and Harizay, Faratanjona and Laurent, Nicole and Rousseau, Thierry and Faivre, Laurence and Thauvin‐Robinet, Christel
Prenatal Diagnosis, ISSN 0197-3851, 08/2019, Volume 39, Issue 9, pp. 806 - 810
INFECTION-LIKE SYNDROME | INTRACRANIAL CALCIFICATION | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Phenotypes
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6. Full Text New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay
by Pilliod, Julie and Moutton, Sébastien and Lavie, Julie and Maurat, Elise and Hubert, Christophe and Bellance, Nadège and Anheim, Mathieu and Forlani, Sylvie and Mochel, Fanny and N'Guyen, Karine and Thauvin‐Robinet, Christel and Verny, Christophe and Milea, Dan and Lesca, Gaëtan and Koenig, Michel and Rodriguez, Diana and Houcinat, Nada and Van‐Gils, Julien and Durand, Christelle M and Guichet, Agnès and Barth, Magalie and Bonneau, Dominique and Convers, Philippe and Maillart, Elisabeth and Guyant‐Marechal, Lucie and Hannequin, Didier and Fromager, Guillaume and Afenjar, Alexandra and Chantot‐Bastaraud, Sandra and Valence, Stéphanie and Charles, Perrine and Berquin, Patrick and Rooryck, Caroline and Bouron, Julie and Brice, Alexis and Lacombe, Didier and Rossignol, Rodrigue and Stevanin, Giovanni and Benard, Giovanni and Burglen, Lydie and Durr, Alexandra and Goizet, Cyril and Coupry, Isabelle
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Objective Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose... 
APOPTOSIS | DEFECTS | GENE | CLINICAL PRESENTATION | COMMON | ARSACS | MUTATIONS | DYSFUNCTION | SACSIN-RELATED ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | MITOCHONDRIAL FISSION | Humans | Middle Aged | Male | Spinocerebellar Ataxias - congenital | Young Adult | Heat-Shock Proteins - genetics | Spinocerebellar Ataxias - diagnosis | Fibroblasts | Adult | Female | Cell Culture Techniques | Child | Spinocerebellar Ataxias - genetics | Spinocerebellar Ataxias - physiopathology | Mitochondria - metabolism | Mitochondria - pathology | Spinocerebellar Ataxias - pathology | Muscle Spasticity - pathology | Adolescent | Biomarkers | Muscle Spasticity - diagnosis | Muscle Spasticity - physiopathology | Mutation | Heat-Shock Proteins - physiology | Mitochondria - physiology | Muscle Spasticity - genetics | Cohort Studies | Ataxia | Life Sciences | Human health and pathology | Neurons and Cognition
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7. Full Text Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing
by Baurand, Amandine and Falcon‐Eicher, Sylvie and Laurent, Gabriel and Villain, Elisabeth and Bonnet, Caroline and Thauvin‐Robinet, Christel and Jacquot, Caroline and Eicher, Jean‐Christophe and Gourraud, Jean‐Baptiste and Schmitt, Sébastien and Bézieau, Stéphane and Giraud, Mathilde and Dumont, Solenne and Kuentz, Paul and Probst, Vincent and Burguet, Antoine and Kyndt, Florence and Faivre, Laurence
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 531 - 536
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis... 
Timothy syndrome | mosaic mutation | CACNA1C | syndactyly | next‐generation sequencing | long‐QT | long-QT | next-generation sequencing | GENETICS & HEREDITY | ARRHYTHMIA | Autistic Disorder - genetics | Genetic Association Studies | Humans | Long QT Syndrome - diagnosis | Phenotype | Calcium Channels, L-Type - genetics | Codon | DNA Mutational Analysis | Alleles | Electrocardiography | Long QT Syndrome - genetics | Female | Mosaicism | High-Throughput Nucleotide Sequencing | Mutation | Autistic Disorder - diagnosis | Child | Syndactyly - diagnosis | Amino Acid Substitution | Syndactyly - genetics | Analysis | Genes | Electrocardiogram | Genetic research | Genetic aspects | Nucleotide sequencing | DNA sequencing | EKG | Heart | Phenotypes | Missense mutation | Surgery | Syndactyly | KCNQ1 protein | Potassium channels (voltage-gated) | Diagnosis | Life Sciences | Genetics
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8. Full Text Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
by Redin, Claire and Gérard, Bénédicte and Lauer, Julia and Herenger, Yvan and Muller, Jean and Quartier, Angélique and Masurel-Paulet, Alice and Willems, Marjolaine and Lesca, Gaétan and El-Chehadeh, Salima and Le Gras, Stéphanie and Vicaire, Serge and Philipps, Muriel and Dumas, Michaël and Geoffroy, Véronique and Feger, Claire and Haumesser, Nicolas and Alembik, Yves and Barth, Magalie and Bonneau, Dominique and Colin, Estelle and Dollfus, Hélène and Doray, Bérénice and Delrue, Marie-Ange and Drouin-Garraud, Valérie and Flori, Elisabeth and Fradin, Mélanie and Francannet, Christine and Goldenberg, Alice and Lumbroso, Serge and Mathieu-Dramard, Michèle and Martin-Coignard, Dominique and Lacombe, Didier and Morin, Gilles and Polge, Anne and Sukno, Sylvie and Thauvin-Robinet, Christel and Thevenon, Julien and Doco-Fenzy, Martine and Genevieve, David and Sarda, Pierre and Edery, Patrick and Isidor, Bertrand and Jost, Bernard and Olivier-Faivre, Laurence and Mandel, Jean-Louis and Piton, Amélie
Journal of Medical Genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of... 
INDIVIDUALS | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | RETT-SYNDROME | NEUROLIGIN GENES | FRAGILE-X | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | DEVELOPMENTAL DELAY | AUTISM SPECTRUM DISORDERS | DELETION | Molecular Diagnostic Techniques - methods | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Intellectual Disability - genetics | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Infant, Newborn | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
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9. Full Text Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
by Thevenon, Julien and Lopez, Estelle and Keren, Boris and Heron, Delphine and Mignot, Cyril and Altuzarra, Cecilia and Béri-Dexheimer, Mylène and Bonnet, Céline and Magnin, Eloi and Burglen, Lydie and Minot, Delphine and Vigneron, Jacqueline and Morle, Sophie and Anheim, Mathieu and Charles, Perrine and Brice, Alexis and Gallagher, Louise and Amiel, Jeanne and Haffen, Emmanuel and Mach, Corinne and Depienne, Christel and Doummar, Diane and Bonnet, Marlène and Duplomb, Laurence and Carmignac, Virginie and Callier, Patrick and Marle, Nathalie and Mosca-Boidron, Anne-Laure and Roze, Virginie and Aral, Bernard and Razavi, Ferechte and Jonveaux, Philippe and Faivre, Laurence and Thauvin-Robinet, Christel
Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 400 - 408
BackgroundNon-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a... 
MENTAL-RETARDATION | GENE | BINDING TRANSCRIPTION ACTIVATORS | GENETICS & HEREDITY | RHODOPSIN | DEVELOPMENTAL DELAY | MUTATIONS | Humans | Middle Aged | Child, Preschool | Infant | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Pedigree | Gene Rearrangement | Adolescent | Trans-Activators - genetics | Adult | Female | Ataxia - genetics | Calcium-Binding Proteins - genetics
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10. Full Text SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
by Millecamps, Stéphanie and Salachas, François and Cazeneuve, Cécile and Gordon, Paul and Bricka, Bernard and Camuzat, Agnès and Guillot-Noël, Léna and Russaouen, Odile and Bruneteau, Gaëlle and Pradat, Pierre-François and Le Forestier, Nadine and Vandenberghe, Nadia and Danel-Brunaud, Véronique and Guy, Nathalie and Thauvin-Robinet, Christel and Lacomblez, Lucette and Couratier, Philippe and Hannequin, Didier and Seilhean, Danielle and Le Ber, Isabelle and Corcia, Philippe and Camu, William and Brice, Alexis and Rouleau, Guy and LeGuern, Eric and Meininger, Vincent
Journal of Medical Genetics, ISSN 0022-2593, 08/2010, Volume 47, Issue 8, pp. 554 - 560
BackgroundMutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS).MethodsThe relative contributions of... 
Superoxide Dismutase - genetics | Age Distribution | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Ribonuclease, Pancreatic - genetics | Vesicular Transport Proteins - genetics | RNA-Binding Protein FUS - genetics | Male | Longevity | DNA-Binding Proteins - genetics | Mutation - genetics | Age of Onset | Aged, 80 and over | Adult | Family | Female | Aged | Amyotrophic Lateral Sclerosis - enzymology | Amyotrophic Lateral Sclerosis - epidemiology | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Research | Gene mutations | Identification and classification
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11. Full Text Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
by Isidor, Bertrand and Lindenbaum, Pierre and Pichon, Olivier and Bézieau, Stéphane and Dina, Christian and Jacquemont, Sébastien and Martin-Coignard, Dominique and Thauvin-Robinet, Christel and Le Merrer, Martine and Mandel, Jean-Louis and David, Albert and Faivre, Laurence and Cormier-Daire, Valérie and Redon, Richard and Le Caignec, Cédric
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 306 - 308
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six... 
OSTEOBLAST DIFFERENTIATION | ALAGILLE-SYNDROME | SIGNALING PATHWAY | GENETICS & HEREDITY | Rare Diseases - genetics | Frameshift Mutation | Exons | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Young Adult | Base Sequence | Adult | Female | Rare Diseases - pathology | Rare Diseases - metabolism | Amino Acid Sequence | Signal Transduction | Receptor, Notch2 - metabolism | Codon, Nonsense | DNA - genetics | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Heterozygote | Mutation | Somatotropin | Osteoporosis | Care and treatment | Physiological aspects | Congenital heart disease | Genetic aspects | Research | Risk factors | Proteins | Genetics | Bone density
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12. Full Text Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
by Benko, Sabina and Gordon, Christopher T and Mallet, Delphine and Sreenivasan, Rajini and Thauvin-Robinet, Christel and Brendehaug, Atle and Thomas, Sophie and Bruland, Ove and David, Michel and Nicolino, Marc and Labalme, Audrey and Sanlaville, Damien and Callier, Patrick and Malan, Valerie and Huet, Frédéric and Molven, Anders and Dijoud, Frédérique and Munnich, Arnold and Faivre, Laurence and Amiel, Jeanne and Harley, Vincent and Houge, Gunnar and Morel, Yves and Lyonnet, Stanislas
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 825 - 830
BackgroundThe early gonad is bipotential and can differentiate into either a testis or an ovary. In XY embryos, the SRY gene triggers testicular... 
CAMPOMELIC DYSPLASIA | NONCODING ELEMENTS | GENETICS & HEREDITY | ENHANCER | DUPLICATION | MICE | SRY | 46,XX | TESTICULAR DISORDER | REVERSAL | DELETION | Gene Duplication | Haplotypes | Sex-Determining Region Y Protein - genetics | Humans | Regulatory Sequences, Nucleic Acid | Infant | Male | DNA Copy Number Variations | Gonadal Dysgenesis, 46,XY - genetics | Female | Child | SOX9 Transcription Factor - metabolism | 46, XX Disorders of Sex Development - genetics | Gonadal Dysgenesis, 46,XY - metabolism | Gonadal Dysgenesis, 46,XY - pathology | Chromosome Mapping | 46, XX Disorders of Sex Development - pathology | Comparative Genomic Hybridization | Gonadoblastoma - genetics | Pedigree | Alleles | Gonadoblastoma - pathology | Sex-Determining Region Y Protein - metabolism | 46, XX Disorders of Sex Development - metabolism | SOX9 Transcription Factor - genetics | Physiological aspects | Sex chromosome abnormalities | Research
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