Human Genetics, ISSN 0340-6717, 6/2019, Volume 138, Issue 6, pp. 625 - 634
Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on...
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Aneurysms | Bone morphogenetic proteins | Genetic aspects | Cardiology | Heart | Smad protein | Phenotypes | Pulmonary arteries | Cardiomyopathy | Craniosynostosis | Coronary artery | Stenosis | Dysostosis | Thorax | Pulmonary artery | Pathogenicity | Genotype & phenotype | Dilated cardiomyopathy | Aorta | Aortic valve
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Aneurysms | Bone morphogenetic proteins | Genetic aspects | Cardiology | Heart | Smad protein | Phenotypes | Pulmonary arteries | Cardiomyopathy | Craniosynostosis | Coronary artery | Stenosis | Dysostosis | Thorax | Pulmonary artery | Pathogenicity | Genotype & phenotype | Dilated cardiomyopathy | Aorta | Aortic valve
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2019, Volume 96, Issue 1, pp. 85 - 90
Megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS), a rare condition that affects smooth muscle cells, is caused by biallelic null alleles in...
microdeletion 16q13.11 | multisystemic smooth muscle dysfunction | MYH11 | MMIHS | tonically dilated pupil | CHAIN | COMPLEX | GENETICS & HEREDITY | PHENOTYPE | DISORDER | HUMANS | microdeletion 16q13 | MUTATIONS | Somatotropin | Adenosine | Analysis | Thyroid hormones | Nucleotide sequencing | Hypothyroidism | DNA sequencing | MYH11 gene | Copy number | Proline | Smooth muscle | Genetic screening | Heterozygosity | Molecular modelling | Clonal deletion | Intestine | Alleles | Growth hormone | ATP
microdeletion 16q13.11 | multisystemic smooth muscle dysfunction | MYH11 | MMIHS | tonically dilated pupil | CHAIN | COMPLEX | GENETICS & HEREDITY | PHENOTYPE | DISORDER | HUMANS | microdeletion 16q13 | MUTATIONS | Somatotropin | Adenosine | Analysis | Thyroid hormones | Nucleotide sequencing | Hypothyroidism | DNA sequencing | MYH11 gene | Copy number | Proline | Smooth muscle | Genetic screening | Heterozygosity | Molecular modelling | Clonal deletion | Intestine | Alleles | Growth hormone | ATP
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 04/2019, Volume 20, Issue 1, pp. 62 - 10
BackgroundReports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA,...
Autosomal recessive | Optic atrophy | PROTEIN | GENE | DATABASE | GENETICS & HEREDITY | TMEM126A | OPA1 MUTATIONS | PREDICTION | Mitochondria | Analysis | Genetic aspects | Diagnosis | Nucleotide sequencing | Health aspects | DNA sequencing | Phenotypes | Nuclear magnetic resonance--NMR | Disease | Transcription | Genomics | Genes | Case reports | Amino acids | Genomes | Mitochondrial DNA | Hearing impairment | Ribonucleic acid--RNA | Data bases | Atrophy | Proteins | Software | Children | Mutation | Bioinformatics | Deoxyribonucleic acid--DNA | Siblings
Autosomal recessive | Optic atrophy | PROTEIN | GENE | DATABASE | GENETICS & HEREDITY | TMEM126A | OPA1 MUTATIONS | PREDICTION | Mitochondria | Analysis | Genetic aspects | Diagnosis | Nucleotide sequencing | Health aspects | DNA sequencing | Phenotypes | Nuclear magnetic resonance--NMR | Disease | Transcription | Genomics | Genes | Case reports | Amino acids | Genomes | Mitochondrial DNA | Hearing impairment | Ribonucleic acid--RNA | Data bases | Atrophy | Proteins | Software | Children | Mutation | Bioinformatics | Deoxyribonucleic acid--DNA | Siblings
Journal Article
European Radiology, ISSN 0938-7994, 07/2017, Volume 27, Issue 7, pp. 2969 - 2977
To evaluate the diagnostic performance of a novel CT post-processing software that generates subtraction maps of baseline and follow-up CT examinations in the...
CT imaging | Bone subtraction maps | Pelvic bones | Lytic bone lesions | Multiple myeloma | WHOLE-BODY MRI | MULTIPLE-MYELOMA | INVOLVEMENT | BORTEZOMIB | COMPUTED-TOMOGRAPHY | ACCURACY | STAGING SYSTEM | IMAGES | PROTEASOME INHIBITOR | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Reproducibility of Results | Multiple Myeloma - diagnosis | Humans | Image Interpretation, Computer-Assisted - methods | Middle Aged | Multidetector Computed Tomography - methods | Male | Subtraction Technique | Neoplasm Staging - methods | Algorithms | Aged, 80 and over | Adult | Female | ROC Curve | Whole Body Imaging | Aged | Retrospective Studies | Software | Pelvic Bones - diagnostic imaging | Usage | Diagnostic imaging | Bone lesions | Hematology | Categories | Bone diseases | Myeloma | Bone (axial) | Patients | Reading | Subtraction | Post-processing | Computed tomography | Classification | Diagnostic software | Remission | Diagnostic systems | Bone | Lesions | Monitoring
CT imaging | Bone subtraction maps | Pelvic bones | Lytic bone lesions | Multiple myeloma | WHOLE-BODY MRI | MULTIPLE-MYELOMA | INVOLVEMENT | BORTEZOMIB | COMPUTED-TOMOGRAPHY | ACCURACY | STAGING SYSTEM | IMAGES | PROTEASOME INHIBITOR | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Reproducibility of Results | Multiple Myeloma - diagnosis | Humans | Image Interpretation, Computer-Assisted - methods | Middle Aged | Multidetector Computed Tomography - methods | Male | Subtraction Technique | Neoplasm Staging - methods | Algorithms | Aged, 80 and over | Adult | Female | ROC Curve | Whole Body Imaging | Aged | Retrospective Studies | Software | Pelvic Bones - diagnostic imaging | Usage | Diagnostic imaging | Bone lesions | Hematology | Categories | Bone diseases | Myeloma | Bone (axial) | Patients | Reading | Subtraction | Post-processing | Computed tomography | Classification | Diagnostic software | Remission | Diagnostic systems | Bone | Lesions | Monitoring
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 8, pp. 1832 - 1841
Purpose: Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting...
next-generation sequencing | connective tissue disorder | Marfan syndrome | TAAD | aortopathy | DIAGNOSIS | MANAGEMENT | VARIANTS | GUIDELINES | AMERICAN-COLLEGE | MARFAN | THORACIC AORTIC-ANEURYSM | GENETICS | DISSECTION | MUTATION | GENETICS & HEREDITY
next-generation sequencing | connective tissue disorder | Marfan syndrome | TAAD | aortopathy | DIAGNOSIS | MANAGEMENT | VARIANTS | GUIDELINES | AMERICAN-COLLEGE | MARFAN | THORACIC AORTIC-ANEURYSM | GENETICS | DISSECTION | MUTATION | GENETICS & HEREDITY
Journal Article
Neuropediatrics, ISSN 0174-304X, 09/2019, Volume 50, Issue S 02
Conference Proceeding
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 579 - 591
p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of CDC42 and RAC, which are members of the RHO family of small GTPases....
INTELLECTUAL DISABILITY | CDC42 | MENTAL-RETARDATION | GENE | REGULATES SPINE MORPHOGENESIS | PATHWAY | PROTEIN-KINASE | GENETICS & HEREDITY | PHENOTYPES | CONFORMATION | REVEALS | Care and treatment | Genetic aspects | Research | Gene mutations | Mental illness | Protein kinases
INTELLECTUAL DISABILITY | CDC42 | MENTAL-RETARDATION | GENE | REGULATES SPINE MORPHOGENESIS | PATHWAY | PROTEIN-KINASE | GENETICS & HEREDITY | PHENOTYPES | CONFORMATION | REVEALS | Care and treatment | Genetic aspects | Research | Gene mutations | Mental illness | Protein kinases
Journal Article
Academic Radiology, ISSN 1076-6332, 2017, Volume 24, Issue 5, pp. 623 - 632
Rationale and Objectives The study aimed to assess the diagnostic benefit of a novel computed tomography (CT) post-processing software generating subtraction...
Radiology | CT imaging | lytic bone lesions | pelvic bones | bone subtraction maps | Multiple myeloma
Radiology | CT imaging | lytic bone lesions | pelvic bones | bone subtraction maps | Multiple myeloma
Journal Article
Human Mutation, ISSN 1059-7794, 07/2018, Volume 39, Issue 7, pp. 983 - 992
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a...
Alu‐mediated recombination | Mainzer‐Saldino syndrome | structural variation | tandem duplication | copy number variation | IFT140 | whole‐genome sequencing | whole-genome sequencing | Alu-mediated recombination | Mainzer-Saldino syndrome | DIAGNOSIS | VARIANTS | BARDET-BIEDL | POWERFUL | IDENTIFICATION | IFT20 | RETINAL DYSTROPHY | DATABASE | MUTATION | GENETICS & HEREDITY | Medical research | Genomics | Genetic research | Medicine, Experimental | Genomes | Nucleotide sequencing | DNA sequencing | Pathogenicity | Recombination | Phenotypes | Fibroblasts | Skin | Mutation | Life Sciences | Genetics
Alu‐mediated recombination | Mainzer‐Saldino syndrome | structural variation | tandem duplication | copy number variation | IFT140 | whole‐genome sequencing | whole-genome sequencing | Alu-mediated recombination | Mainzer-Saldino syndrome | DIAGNOSIS | VARIANTS | BARDET-BIEDL | POWERFUL | IDENTIFICATION | IFT20 | RETINAL DYSTROPHY | DATABASE | MUTATION | GENETICS & HEREDITY | Medical research | Genomics | Genetic research | Medicine, Experimental | Genomes | Nucleotide sequencing | DNA sequencing | Pathogenicity | Recombination | Phenotypes | Fibroblasts | Skin | Mutation | Life Sciences | Genetics
Journal Article
Nature Communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in...
INTELLECTUAL DISABILITY | EXOME | DIAGNOSIS | CHROMATIN REMODELING COMPLEX | DE-NOVO MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | DISORDER | DEACETYLASE COMPLEX | NURD | FAMILY | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
INTELLECTUAL DISABILITY | EXOME | DIAGNOSIS | CHROMATIN REMODELING COMPLEX | DE-NOVO MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | DISORDER | DEACETYLASE COMPLEX | NURD | FAMILY | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
Journal Article
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has...
DNA helicase | Neurodevelopmental disorders | Mutation
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
DNA helicase | Neurodevelopmental disorders | Mutation
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2018, Volume 49, Issue S 02
Conference Proceeding
Annals of Surgery, ISSN 0003-4932, 07/2012, Volume 256, Issue 1, pp. 130 - 138
Background: Because of its retrospective character, the classification system of the International Study Group of Pancreatic Fistula (ISGPF) lacks prognostic...
SURGERY | RISK-FACTORS | PROSPECTIVE RANDOMIZED-TRIAL | COMPARING STANDARD PANCREATICODUODENECTOMY | POSTPANCREATECTOMY HEMORRHAGE | COMPLETION PANCREATECTOMY | HEAD ADENOCARCINOMA | DECREASE RATE | SINGLE-INSTITUTION EXPERIENCE | EXTENDED LYMPHADENECTOMY | V-SHAPED EXCISION | Decision Making | Bile Duct Neoplasms - surgery | Multivariate Analysis | Amylases - blood | Hospital Mortality | Adenocarcinoma - classification | Humans | Middle Aged | Logistic Models | Male | Pancreaticoduodenectomy | Adenocarcinoma - complications | Pancreatic Fistula - mortality | Bilirubin - blood | Pancreatic Fistula - classification | Pancreatic Fistula - complications | Aged, 80 and over | Pancreatitis, Chronic - surgery | Adult | Female | Aged | C-Reactive Protein - analysis | Adenocarcinoma - mortality
SURGERY | RISK-FACTORS | PROSPECTIVE RANDOMIZED-TRIAL | COMPARING STANDARD PANCREATICODUODENECTOMY | POSTPANCREATECTOMY HEMORRHAGE | COMPLETION PANCREATECTOMY | HEAD ADENOCARCINOMA | DECREASE RATE | SINGLE-INSTITUTION EXPERIENCE | EXTENDED LYMPHADENECTOMY | V-SHAPED EXCISION | Decision Making | Bile Duct Neoplasms - surgery | Multivariate Analysis | Amylases - blood | Hospital Mortality | Adenocarcinoma - classification | Humans | Middle Aged | Logistic Models | Male | Pancreaticoduodenectomy | Adenocarcinoma - complications | Pancreatic Fistula - mortality | Bilirubin - blood | Pancreatic Fistula - classification | Pancreatic Fistula - complications | Aged, 80 and over | Pancreatitis, Chronic - surgery | Adult | Female | Aged | C-Reactive Protein - analysis | Adenocarcinoma - mortality
Journal Article