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1. Full Text Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
by Simpson, Michael A and Irving, Melita D and Asilmaz, Esra and Gray, Mary J and Dafou, Dimitra and Elmslie, Frances V and Mansour, Sahar and Holder, Sue E and Brain, Caroline E and Burton, Barbara K and Kim, Katherine H and Pauli, Richard M and Aftimos, Salim and Stewart, Helen and Kim, Chong Ae and Holder-Espinasse, Muriel and Robertson, Stephen P and Drake, William M and Trembath, Richard C
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder... 
GENETICS & HEREDITY | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes
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2. Full Text Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
by Meester, Josephina A.N and Sukalo, Maja and Schröder, Kim C and Schanze, Denny and Baynam, Gareth and Borck, Guntram and Bramswig, Nuria C and Duman, Duygu and Gilbert‐Dussardier, Brigitte and Holder‐Espinasse, Muriel and Itin, Peter and Johnson, Diana S and Joss, Shelagh and Koillinen, Hannele and McKenzie, Fiona and Morton, Jenny and Nelle, Heike and Reardon, Willie and Roll, Claudia and Salih, Mustafa A and Savarirayan, Ravi and Scurr, Ingrid and Splitt, Miranda and Thompson, Elizabeth and Titheradge, Hannah and Travers, Colm P and Maldergem, Lionel and Whiteford, Margo and Wieczorek, Dagmar and Vandeweyer, Geert and Trembath, Richard and Laer, Lut and Loeys, Bart L and Zenker, Martin and Southgate, Laura and Wuyts, Wim
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1246 - 1261
Adams–Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD).... 
mutation screening | genetics | Adams–Oliver syndrome | Notch signaling | Rho GTPase | LIMB DEFECTS | NOTCH1 | Adams-Oliver syndrome | VARIANTS | ANOMALIES | CLINICAL PHENOTYPES | APLASIA-CUTIS-CONGENITA | OF-FUNCTION MUTATIONS | MISSENSE MUTATIONS | GENETICS & HEREDITY | DOMAINS | ASSOCIATION | Limb Deformities, Congenital - genetics | Genetic Association Studies | rho GTP-Binding Proteins - genetics | Humans | Scalp Dermatoses - physiopathology | Limb Deformities, Congenital - physiopathology | Male | Receptors, Notch - genetics | Ectodermal Dysplasia - physiopathology | Scalp - physiopathology | Pedigree | Female | Ectodermal Dysplasia - genetics | Mutation | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Extremities - physiopathology | Genetic research | Analysis | Genetic screening | Phenotypes | Aplasia | Scalp | Heritability | Skin | Heredity | Genotypes
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3. Full Text Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
by Mansour‐Hendili, Lamisse and Blanchard, Anne and Pottier, Nelly and Roncelin, Isabelle and Lourdel, Stéphane and Treard, Cyrielle and González, Wendy and Vergara‐Jaque, Ariela and Morin, Gilles and Colin, Estelle and Holder‐Espinasse, Muriel and Bacchetta, Justine and Baudouin, Véronique and Benoit, Stéphane and Bérard, Etienne and Bourdat‐Michel, Guylhène and Bouchireb, Karim and Burtey, Stéphane and Cailliez, Mathilde and Cardon, Gérard and Cartery, Claire and Champion, Gerard and Chauveau, Dominique and Cochat, Pierre and Dahan, Karin and Faille, Renaud and Debray, François‐Guillaume and Dehoux, Laurenne and Deschenes, Georges and Desport, Estelle and Devuyst, Olivier and Dieguez, Stella and Emma, Francesco and Fischbach, Michel and Fouque, Denis and Fourcade, Jacques and François, Hélène and Gilbert‐Dussardier, Brigitte and Hannedouche, Thierry and Houillier, Pascal and Izzedine, Hassan and Janner, Marco and Karras, Alexandre and Knebelmann, Bertrand and Lavocat, Marie‐Pierre and Lemoine, Sandrine and Leroy, Valérie and Loirat, Chantal and Macher, Marie‐Alice and Martin‐Coignard, Dominique and Morin, Denis and Niaudet, Patrick and Nivet, Hubert and Nobili, François and Novo, Robert and Faivre, Laurence and Rigothier, Claire and Roussey‐Kesler, Gwenaëlle and Salomon, Remi and Schleich, Andreas and Sellier‐Leclerc, Anne‐Laure and Soulami, Kenza and Tiple, Aurélien and Ulinski, Tim and Vanhille, Philippe and Regemorter, Nicole and Jeunemaître, Xavier and Vargas‐Poussou, Rosa
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 743 - 752
ABSTRACT Dent disease is a rare X‐linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or... 
low molecular weight proteinuria | renal failure | ClC‐5 | CLCN5 | Dent disease 1 | ClC-5 | Low molecular weight proteinuria | Renal failure | PHENOTYPE | JAPANESE CHILDREN | ENDOCYTOSIS | IDENTIFICATION | MESSENGER-RNA | GENETICS & HEREDITY | MOLECULAR-WEIGHT PROTEINURIA | RENAL CHLORIDE CHANNEL | NEPHROCALCINOSIS | EXPRESSION | Chloride Channels - chemistry | Genetic Association Studies | Humans | Male | Chloride Channels - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Dent Disease - genetics | Pedigree | Dent Disease - metabolism | Mice | Mutation | Cohort Studies | Genotype & phenotype | Genetic counseling | Genetic disorders | Life Sciences
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4. Full Text Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
by Benko, Sabina and Fantes, Judy A and Amiel, Jeanne and Kleinjan, Dirk-Jan and Thomas, Sophie and Ramsay, Jacqueline and Jamshidi, Negar and Essafi, Abdelkader and Heaney, Simon and Gordon, Christopher T and McBride, David and Golzio, Christelle and Fisher, Malcolm and Perry, Paul and Abadie, Véronique and Ayuso, Carmen and Holder-Espinasse, Muriel and Kilpatrick, Nicky and Lees, Melissa M and Picard, Arnaud and Temple, I. Karen and Thomas, Paul and Vazquez, Marie-Paule and Vekemans, Michel and Crollius, Hugues Roest and Hastie, Nicholas D and Munnich, Arnold and Etchevers, Heather C and Pelet, Anna and Farlie, Peter G and Fitzpatrick, David R and Lyonnet, Stanislas
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 3, pp. 359 - 364
Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS,... 
NEURAL CREST DEVELOPMENT | CELLS | CAMPOMELIC DYSPLASIA | UPSTREAM | DOWNSTREAM | DISTINCT | GENETICS & HEREDITY | GENE-EXPRESSION | MECHANISMS | KCNJ2 | Humans | Molecular Sequence Data | Mice, Transgenic | Chromosome Mapping | Animals | Pierre Robin Syndrome - genetics | Chromosomes, Human, Pair 17 | Polymorphism, Genetic - physiology | Gene Expression Regulation, Developmental | Pedigree | Base Sequence | Conserved Sequence | Family | Mice | SOX9 Transcription Factor - genetics | Untranslated Regions - genetics | Regulatory Elements, Transcriptional - genetics | Noncoding DNA | Gene mutations | Abnormalities | Physiological aspects | Bones | Genetic aspects | Research | Health aspects | Risk factors | Studies | Confidence intervals | Mutation | Binding sites | Genetic linkage | Life Sciences | Quantitative Methods | Bioinformatics | Biochemistry, Molecular Biology | Computer Science
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5. Full Text Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
by Irving, Melita D and Dimitrov, Boyan I and Wessels, Marja and Holder‐Espinasse, Muriel and Chitayat, David and Simpson, Michael A
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3133 - 3137
Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae,... 
SF3B4 | exome sequencing | Nager syndrome | Rodriguez acrofacial dysostosis | GENETICS & HEREDITY | CONFIRMATION | FACIAL DYSOSTOSES | PRENATAL-DIAGNOSIS | HAPLOINSUFFICIENCY | Genetic Predisposition to Disease | Humans | Mandibulofacial Dysostosis - physiopathology | Male | RNA Splicing Factors - genetics | Abnormalities, Multiple - physiopathology | Mandibulofacial Dysostosis - genetics | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Fetus | Heterozygote | Mutation | Abnormalities, Multiple - genetics | Siblings | Genes | Genetic aspects
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6. Full Text Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
by Pittaway, James F H and Harrison, Christopher and Rhee, Yumie and Holder-Espinasse, Muriel and Fryer, Alan E and Cundy, Tim and Drake, William M and Irving, Melita D
Orphanet journal of rare diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 104 - 1
After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below. 
Medicine, Experimental | Osteoporosis | Medical research | Denosumab | Literature reviews
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7. Full Text Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
by Willemsen, Marjolein H and Vallès, Astrid and Kirkels, Laurens A M H and Mastebroek, Mathilde and Olde Loohuis, Nikkie and Kos, Aron and Wissink-Lindhout, Willemijn M and de Brouwer, Arjan P M and Nillesen, Willy M and Pfundt, Rolph and Holder-Espinasse, Muriel and Vallée, Louis and Andrieux, Joris and Coppens-Hofman, Marjolein C and Rensen, Hanneke and Hamel, Ben C J and van Bokhoven, Hans and Aschrafi, Armaz and Kleefstra, Tjitske
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
BackgroundMicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as... 
MESSENGER-RNAS | PROTEIN | MENTAL-RETARDATION | RETT-SYNDROME | GENE | ADULT-MOUSE FOREBRAIN | GENETICS & HEREDITY | TARGETS | LYMPHOBLASTOID CELL-LINES | MICRORNA EXPRESSION | MAMMALIAN-CELLS | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation
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8. Full Text A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
by Terhal, Paulien A and Nievelstein, Rutger Jan A. J and Verver, Eva J. J and Topsakal, Vedat and van Dommelen, Paula and Hoornaert, Kristien and Le Merrer, Martine and Zankl, Aneas and Simon, Marleen E. H and Smithson, Sarah F and Marcelis, Carlo and Kerr, Bronwyn and Clayton-Smith, Jill and Kinning, Esther and Mansour, Sahar and Elmslie, Frances and Goodwin, Linda and van der Hout, Annemarie H and Veenstra-Knol, Hermine E and Herkert, Johanna C and Lund, Allan M and Hennekam, Raoul C. M and Mégarbané, Ané and Lees, Melissa M and Wilson, Louise C and Male, Alison and Hurst, Jane and Alanay, Yasemin and Annerén, Göran and Betz, Regina C and Bongers, Ernie M. H. F and Cormier-Daire, Valerie and Dieux, Anne and David, Albert and Elting, Mariet W and van den Ende, Jenneke and Green, Anew and van Hagen, Johanna M and Hertel, Niels Thomas and Holder-Espinasse, Muriel and den Hollander, Nicolette and Homfray, Tessa and Hove, Hanne D and Price, Susan and Raas-Rothschild, Annick and Rohrbach, Marianne and Schroeter, Barbara and Suri, Mohnish and Thompson, Elizabeth M and Tobias, Edward S and Toutain, Annick and Vreeburg, Maaike and Wakeling, Emma and Knoers, Nine V and Coucke, Paul and Mortier, Geert R and Science for Life Laboratory, SciLifeLab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 3, pp. 461 - 475
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However,... 
genotype–phenotype | COL2A1 | review | SEDC | spondyloepiphyseal dysplasia | Review | Spondyloepiphyseal dysplasia | Genotype-phenotype | II COLLAGEN | GENE | KNIEST DYSPLASIA | GENETICS & HEREDITY | RETINAL-DETACHMENT | MYELOPATHY | genotype-phenotype | CARTILAGE | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Infant | Male | Collagen Type II - genetics | Radiography | Young Adult | Phenotype | Osteochondrodysplasias - genetics | DNA Mutational Analysis | Osteochondrodysplasias - congenital | Adolescent | Adult | Female | Aged | Osteochondrodysplasias - diagnostic imaging | Mutation | Child | Cohort Studies | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Collagen | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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9. Full Text Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
by Lehalle, Daphné and Gordon, Christopher T and Oufadem, Myriam and Goudefroye, Géraldine and Boutaud, Lucile and Alessandri, Jean‐Luc and Baena, Neus and Baujat, Geneviève and Baumann, Clarisse and Boute‐Benejean, Odile and Caumes, Roseline and Decaestecker, Charles and Gaillard, Dominique and Goldenberg, Alice and Gonzales, Marie and Holder‐Espinasse, Muriel and Jacquemont, Marie‐Line and Lacombe, Didier and Manouvrier‐Hanu, Sylvie and Marlin, Sandrine and Mathieu‐Dramard, Michèle and Morin, Gilles and Pasquier, Laurent and Petit, Florence and Rio, Marlène and Smigiel, Robert and Thauvin‐Robinet, Christel and Vasiljevic, Alexandre and Verloes, Alain and Malan, Valérie and Munnich, Arnold and Pontual, Loïc and Vekemans, Michel and Lyonnet, Stanislas and Attié‐Bitach, Tania and Amiel, Jeanne
Human Mutation, ISSN 1059-7794, 04/2014, Volume 35, Issue 4, pp. 478 - 485
ABSTRACT Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome... 
EFTUD2 | microcephaly | mandibulofacial dysostosis | spliceosome | Spliceosome | Microcephaly | Mandibulofacial dysostosis | ESOPHAGEAL ATRESIA | COMPLEX | MENTAL-RETARDATION | ANOMALIES | GENETICS & HEREDITY | OTO-FACIAL SYNDROME | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Peptide Elongation Factors - metabolism | Microcephaly - genetics | Ear, External - pathology | Humans | Mandibulofacial Dysostosis - pathology | Child, Preschool | Ribonucleoprotein, U5 Small Nuclear - metabolism | Infant | Male | Anus, Imperforate - pathology | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Thrombocytopenia - genetics | Mandibulofacial Dysostosis - genetics | Hearing Loss, Bilateral - pathology | Microcephaly - pathology | Female | Child | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Ophthalmoplegia - pathology | Prenatal Diagnosis | Intellectual Disability - pathology | Hearing Loss, Bilateral - genetics | Thrombocytopenia - pathology | Haploinsufficiency | Pregnancy | Phenotype | Hand Deformities, Congenital - genetics | Anus, Imperforate - genetics | Ophthalmoplegia - genetics | Mutation | Hand Deformities, Congenital - pathology | Genetic aspects | Genetic disorders | Birth defects
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10. Full Text Nail-Patella Syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
by Ghoumid, Jamal and Petit, Florence and Holder-Espinasse, Muriel and Jourdain, Anne-Sophie and Guerra, José and Dieux-Coeslier, Anne and Figeac, Martin and Porchet, Nicole and Manouvrier-Hanu, Sylvie and Escande, Fabienne
European Journal of Human Genetics, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 44 - 50
Nail-Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and... 
OPEN-ANGLE GLAUCOMA | LMX1B GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | INVOLVEMENT | GENETICS & HEREDITY | PHENOTYPE | OF-FUNCTION MUTATIONS | IDENTIFICATION | NEPHROPATHY | EXPRESSION | Nephritis, Hereditary - pathology | Exons | Humans | Middle Aged | Child, Preschool | Male | Genes, Dominant | Patella - abnormalities | Adult | Female | Child | Ilium - abnormalities | Gene Expression | Scapula - abnormalities | Nails - metabolism | Introns | Nail-Patella Syndrome - genetics | Ocular Hypertension - pathology | Nephritis, Hereditary - genetics | Transcription Factors - genetics | Ilium - metabolism | Scapula - metabolism | Nails - pathology | Sequence Analysis, DNA | Genetic Heterogeneity | Polymorphism, Genetic | Ocular Hypertension - genetics | LIM-Homeodomain Proteins - genetics | Nail-Patella Syndrome - pathology | Phenotype | Patella - metabolism | Adolescent | Glaucoma - pathology | Glaucoma - genetics | Glaucoma | Hypertension | Phenotypes | Dysplasia | Transcription factors | Nail-patella syndrome | Scapula | Homeobox | Hypotheses | Nephropathy | Genetics | Horns | Mutation | Elbow | Deoxyribonucleic acid--DNA
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11. Full Text Clinical utility gene card for: 3-M syndrome-update 2013
by Holder-Espinasse, Muriel and Irving, Melita and Cormier-Daire, Valérie
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 4, pp. e1 - e4
CUL7 | PATHWAY | CCDC8 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GROWTH | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | OBSL1 | Cullin Proteins - genetics | Spine - abnormalities | Carrier Proteins - genetics | Dwarfism - genetics | Phenotype | Genetic Testing | Muscle Hypotonia - genetics | Cytoskeletal Proteins - genetics | Humans | Genotype | Dwarfism - diagnosis | Muscle Hypotonia - diagnosis | Clinical Utility Gene Card Update
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12. Full Text Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2
by Bornholdt, D and Atkinson, T.P and Bouadjar, B and Catteau, B and Cox, H and Silva, D. De and Fischer, J and Gunasekera, C.N and Hadj-Rabia, S and Happle, R and Holder-Espinasse, M and Kaminski, E and Konig, A and Megarbane, A and Megarbane, H and Neidel, U and Oeffner, F and Oji, V and Theos, A and Traupe, H and Vahlquist, A and Bon, B.W. van and Virtanen, M and Grzeschik, K.H and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper and Dermatologi och venereologi
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 4, pp. 587 - 594
Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and... 
S2P | genotype–phenotype | IFAP syndrome | KFSDX | MBTPS2 | Genotype-phenotype | PROTEIN | ICHTHYOSIS-FOLLICULARIS | CLEAVAGE | ATRICHIA | RETARDATION | genotypephenotype | PHOTOPHOBIA IFAP SYNDROME | STEROL REGULATORY ELEMENT | GENETICS & HEREDITY | ALOPECIA | MANIFESTATIONS | Metalloendopeptidases - genetics | Humans | Child, Preschool | Male | Metalloendopeptidases - metabolism | Mutation, Missense | Genetic Complementation Test | Skin Diseases, Genetic - genetics | Young Adult | Alopecia - genetics | Skin Diseases, Genetic - diagnosis | Ichthyosis - genetics | Female | Genetic Diseases, X-Linked - genetics | Child | Microsatellite Repeats | Ichthyosis - diagnosis | Cell Line | Genetic Association Studies | Photophobia - genetics | Photophobia - diagnosis | Genetic Diseases, X-Linked - diagnosis | Protein Transport | Phenotype | Animals | Adolescent | Alleles | Metalloendopeptidases - chemistry | Polymorphism, Single Nucleotide | Alopecia - diagnosis | Proteases | Lipids | Genetic aspects | Enzymes | Genotype & phenotype | Mutation | Sterols | Medical and Health Sciences | Medicin och hälsovetenskap
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13. Full Text Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
by Plaisancié, Julie and Bailleul‐Forestier, Isabelle and Gaston, Véronique and Vaysse, Fréderic and Lacombe, Didier and Holder‐Espinasse, Muriel and Abramowicz, Marc and Coubes, Christine and Plessis, Ghislaine and Faivre, Laurence and Demeer, Bénédicte and Vincent‐Delorme, Catherine and Dollfus, Hélène and Sigaudy, Sabine and Guillén‐Navarro, Encarna and Verloes, Alain and Jonveaux, Philippe and Martin‐Coignard, Dominique and Colin, Estelle and Bieth, Eric and Calvas, Patrick and Chassaing, Nicolas
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 671 - 678
Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal... 
EDAR | ectodermal dysplasia | WNT10A | EDA | oligodontia | Oligodontia | Ectodermal dysplasia | ISOLATED HYPODONTIA | ACCOUNT | GENETICS & HEREDITY | ONYCHO-DERMAL DYSPLASIA | Amino Acid Sequence | Genetic Association Studies | Anodontia - complications | Humans | Molecular Sequence Data | Genotype | Male | Edar Receptor - genetics | Anodontia - genetics | Phenotype | Sequence Alignment | Wnt Proteins - genetics | Ectodermal Dysplasia - complications | Female | Ectodermal Dysplasia - genetics | Mutation | Invisibility | Genetic aspects | Dysplasia
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14. Full Text Tracheal regeneration: Evidence of bone marrow mesenchymal stem cell involvement
by Seguin, Agathe, MD, PhD and Baccari, Sonia, MD and Holder-Espinasse, Muriel, MD, PhD and Bruneval, Patrick, MD and Carpentier, Alain, MD and Taylor, Doris A., PhD and Martinod, Emmanuel, MD, PhD
Journal of Thoracic and Cardiovascular Surgery, The, ISSN 0022-5223, 2013, Volume 145, Issue 5, pp. 1297 - 1304.e2
Objectives Recent advances in airway transplantation have shown the ability of ex vivo or in vivo tracheal regeneration with bioengineered conduits or... 
Cardiothoracic Surgery | REPLACEMENT | SURGERY | ORGANS | <