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1. Full Text MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
by Barbier, Mathieu and Gross, Marie-Sylvie and Aubart, Mélodie and Hanna, Nadine and Kessler, Ketty and Guo, Dong-Chuan and Tosolini, Laurent and Ho-Tin-Noe, Benoit and Regalado, Ellen and Varret, Mathilde and Abifadel, Marianne and Milleron, Olivier and Odent, Sylvie and Dupuis-Girod, Sophie and Faivre, Laurence and Edouard, Thomas and Dulac, Yves and Busa, Tiffany and Gouya, Laurent and Milewicz, Dianna M and Jondeau, Guillaume and Boileau, Catherine
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 736 - 743
Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Contractile Proteins - genetics | Humans | Middle Aged | Glycoproteins - metabolism | Male | Aneurysm, Dissecting - physiopathology | Aged, 80 and over | Fibroblasts | Adult | Female | Contractile Proteins - metabolism | Child | Glycoproteins - genetics | Haploinsufficiency - genetics | Intercellular Signaling Peptides and Proteins | Codon, Nonsense | Sequence Analysis, DNA | Aortic Aneurysm, Thoracic - physiopathology | Exome - genetics | Pedigree | Adolescent | Aged | Amino Acid Substitution | Genetic research | Aortic aneurysms | Genetic aspects | Research | Gene mutations | Aneurysms | Genetics | Mutation | Pathogenesis | Dissection | Cells | Index Medicus | Report
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2. Full Text Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies
by Mouthon, Linda and Busa, Tiffany and Bretelle, Florence and Karmous‐Benailly, Houda and Missirian, Chantal and Philip, Nicole and Sigaudy, Sabine
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2365 - 2373
EFTUD2 | NEDD4L | prenatal diagnosis | micrognathia | Stickler syndrome | Pierre Robin sequence | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Intellectual disabilities | Fetuses | Prenatal development | Dysostosis | Birth | Genetic screening | Cleft lip/palate | Pregnancy | Prenatal diagnosis | Microencephaly | Genetic analysis | Ultrasound | Index Medicus | Life Sciences | Microbiology and Parasitology | Human health and pathology | Parasitology | Infectious diseases | Emerging diseases | Bacteriology | Cardiology and cardiovascular system | Virology
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3. Full Text Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst
by Mignon‐Ravix, Cécile and Milh, Mathieu and Kaiser, Charlotte Sophia and Daniel, Jens and Riccardi, Florence and Cacciagli, Pierre and Nagara, Majdi and Busa, Tiffany and Liebau, Eva and Villard, Laurent
Human mutation, ISSN 1059-7794, 07/2018, Volume 39, Issue 7, pp. 934 - 938
early myoclonic epilepsy | Ohtahara syndrome | encephalopathy | UBA5 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ubiquitin | Enzymes | Encephalopathy | Analysis | Epilepsy | Proteins | Neonates | Translation | Neural networks | Life Sciences | Genetics | Human genetics
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4. Full Text Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
by Cárdenas-de-la-Parra, Alonso and Martin-Brevet, Sandra and Moreau, Clara and Rodriguez-Herreros, Borja and Fonov, Vladimir S and Maillard, Anne M and Zürcher, Nicole R and Addor, Marie-Claude and Andrieux, Joris and Arveiler, Benoît and Baujatm, Geneviève and Sloan-Bénan, Frédérique and Belfiore, Marco and Bonneau, Dominique and Bouquillon, Sonia and Boute, Odile and Brusco, Alfredo and Busa, Tiffany and Caberg, Jean-Hubert and Campion, Dominique and Colombert, Vanessa and Cordier, Marie-Pierre and David, Albert and Debray, François-Guillaume and Delrue, Marie-Ange and Doco-Fenzy, Martine and Dunkhase-Heinl, Ulrike and Edery, Patrick and Fagerberg, Christina and Faivre, Laurence and Forzano, Francesca and Genevieve, David and Gérard, Marion and Giachino, Daniela and Guichet, Agnès and Guillin, Olivier and Héron, Delphine and Isidor, Bertrand and Jacquette, Aurélia and Jaillard, Sylvie and Journel, Hubert and Keren, Boris and Lacombe, Didier and Lebon, Sébastien and Le Caignec, Cédric and Lemaître, Marie-Pierre and Lespinasse, James and Mathieu-Dramart, Michèle and Mercier, Sandra and Mignot, Cyril and Missirian, Chantal and Petit, Florence and Pilekær Sørensen, Kristina and Pinson, Lucile and Plessis, Ghislaine and Prieur, Fabienne and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sanlaville, Damien and Schlott Kristiansen, Britta and Schluth-Bolard, Caroline and Till, Marianne and Van Haelst, Mieke and Van Maldergem, Lionel and Hadjikhani, Nouchine and Beckmann, Jacques S and Reymond, Alexandre and Draganski, Bogdan and Jacquemont, Sébastien and Collins, D. Louis and 16p11.2 European Consortium and 16p11 2 European Consortium
NeuroImage (Orlando, Fla.), ISSN 1053-8119, 12/2019, Volume 203, pp. 116155 - 116155
Genetics | 16p11.2 Copy number variants | Neurodevelopmental disorders | Imaging | Normative growth trajectories | Brain development | Neuroimaging | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Pediatrics | Medical research | Brain architecture | Mental disorders | Copy number | Genomes | Grants | Anatomy | Substantia alba | Datasets | Consortia | Brain research | Child development | Quality control | Population | Children | Morphometry | Adolescents | Age | Index Medicus | Neuroscience | Cognitive science
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5. Full Text Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
by Brunklaus, Andreas and Du, Juanjiangmeng and Steckler, Felix and Ghanty, Ismael I and Johannesen, Katrine M and Fenger, Christina Dühring and Schorge, Stephanie and Baez‐Nieto, David and Wang, Hao‐Ran and Allen, Andrew and Pan, Jen Q and Lerche, Holger and Heyne, Henrike and Symonds, Joseph D and Zuberi, Sameer M and Sanders, Stephan and Sheidley, Beth R and Craiu, Dana and Olson, Heather E and Weckhuysen, Sarah and DeJonge, Peter and Helbig, Ingo and Van Esch, Hilde and Busa, Tiffany and Milh, Matthieu and Isidor, Bertrand and Depienne, Christel and Poduri, Annapurna and Campbell, Arthur J and Dimidschstein, Jordane and Møller, Rikke S and Lal, Dennis
Epilepsia (Copenhagen), ISSN 0013-9580, 03/2020, Volume 61, Issue 3, pp. 387 - 399
epilepsy | SCN2A | neurodevelopmental disorders | SCN3A | SCN8A | SCN1A | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neonates | Phenotypes | Copy number | Epilepsy | Amino acid sequence | Gene expression | Neurodevelopmental disorders | Patients | Genetic variance | Convulsions & seizures | Sodium | Sodium channels (voltage-gated) | Genotypes | Seizures | Structure-function relationships | Index Medicus
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6. Full Text Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome
by Busa, Tiffany and Legendre, Marine and Bauge, Marie and Quarello, Edwin and Bretelle, Florence and Bilan, Frederic and Sigaudy, Sabine and Gilbert‐Dussardier, Brigitte and Philip, Nicole
Prenatal diagnosis, ISSN 0197-3851, 06/2016, Volume 36, Issue 6, pp. 561 - 567
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Urogenital Abnormalities - diagnostic imaging | Fetal Growth Retardation - diagnostic imaging | Humans | Infant | Male | Kidney | Ear, External - diagnostic imaging | Craniofacial Abnormalities - diagnostic imaging | Cleft Lip - diagnostic imaging | Female | Retrospective Studies | CHARGE Syndrome - diagnostic imaging | Heart Septal Defects - diagnostic imaging | DNA Helicases - genetics | Infant, Newborn | Ureter - abnormalities | Polyhydramnios - diagnostic imaging | DNA-Binding Proteins - genetics | Thymus Gland - diagnostic imaging | Pregnancy | Ear, External - abnormalities | Thymus Gland - abnormalities | Phenotype | Cerebral Ventricles - abnormalities | Cerebral Ventricles - diagnostic imaging | Ultrasonography, Prenatal | Ureter - diagnostic imaging | Medicine, Experimental | Medical research | Diagnostic imaging | Genetic disorders | Diagnosis | Pregnant women | Neuroimaging | Brain | Congenital defects | Fetuses | Criteria | Medical diagnosis | Choanal atresia | Magnetic resonance imaging | Congenital anomalies | CHARGE syndrome | Diagnostic systems | Mutation | Children | Ultrasound | Microphthalmia | Index Medicus | Life Sciences | Human health and pathology | Infectious diseases
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7. Full Text Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
by Arnaud, Pauline and Hanna, Nadine and Benarroch, Louise and Aubart, Mélodie and Bal, Laurence and Bouvagnet, Patrice and Busa, Tiffany and Dulac, Yves and Dupuis-Girod, Sophie and Edouard, Thomas and Faivre, Laurence and Gouya, Laurent and Lacombe, Didier and Langeois, Maud and Leheup, Bruno and Milleron, Olivier and Naudion, Sophie and Odent, Sylvie and Tchitchinadze, Maria and Ropers, Jacques and Jondeau, Guillaume and Boileau, Catherine
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2015 - 2024
thoracic aortic aneurysms and dissections | class 4 and 5 variants | NGS | FBN1 gene | SMAD3 gene | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Aneurysm, Dissecting - diagnosis | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Genetic Predisposition to Disease | Humans | Middle Aged | Male | Genetic Testing - methods | Young Adult | Smad3 Protein - genetics | Aneurysm, Dissecting - physiopathology | Pedigree | Aortic Aneurysm, Thoracic - diagnosis | Adolescent | Pathology, Molecular - methods | Adult | Female | Aged | Fibrillin-1 - genetics | High-Throughput Nucleotide Sequencing | Mutation | Child | Codon, Nonsense - genetics | Aneurysms | Aortic dissection | Dissection | Genes | Index Medicus
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8. Full Text Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature
by Vuillaume, Marie‐Laure and Moizard, Marie‐Pierre and Rossignol, Sylvie and Cottereau, Edouard and Vonwill, Sandrine and Alessandri, Jean‐Luc and Busa, Tiffany and Colin, Estelle and Gérard, Marion and Giuliano, Fabienne and Lambert, Laetitia and Lefevre, Mathilde and Kotecha, Udhaya and Nampoothiri, Sheela and Netchine, Irène and Raynaud, Martine and Brioude, Frédéric and Toutain, Annick
Human mutation, ISSN 1059-7794, 06/2018, Volume 39, Issue 6, pp. 790 - 805
GPC3 | Simpson‐Golabi‐Behmel syndrome | X‐linked disorder | mutations | overgrowth | Simpson-Golabi-Behmel syndrome | X-linked disorder | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, X-Linked - genetics | Humans | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Male | Glypicans - genetics | Intellectual Disability - genetics | Arrhythmias, Cardiac - pathology | Heart Defects, Congenital - genetics | Phenotype | Pedigree | Gigantism - genetics | Genetic Diseases, X-Linked - pathology | Female | Genetic Diseases, X-Linked - genetics | Arrhythmias, Cardiac - genetics | Codon, Nonsense - genetics | Frameshift Mutation - genetics | Gigantism - pathology | Genetic research | Genetic aspects | Genetic disorders | Genes | Literature reviews | Next-generation sequencing | Missense mutation | Congenital defects | GPC3 gene | Heparan sulfate proteoglycans | Mutation | Cell surface | Index Medicus | Life Sciences | Genetics | Human genetics
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9. Full Text WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature
by Brunelle, Perrine and Jourdain, Anne‐Sophie and Escande, Fabienne and Martinovic, Jelena and Dupont, Juliette and Busa, Tiffany and Moncla, Anne and Frénois, Frédéric and Stichelbout, Morgane and Manouvrier‐Hanu, Sylvie and Petit, Florence
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1351 - 1356
split hand/foot malformation | WNT10B | SHFM | limb malformation | ectrodactyly | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Family | Literature reviews | Phenotypes | Polydactyly | Syndactyly | Bone (long) | Genotypes | Feet | Index Medicus
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10. Full Text Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome
by Busa, Tiffany and Jeraiby, Mohammed and Clémenson, Alix and Manouvrier, Sylvie and Granados, Viviana and Philip, Nicole and Touraine, Renaud
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases | Index Medicus
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