-
1
المؤلفون: Francine Blei, Sarah L. Chamlin, Monika Tutaj, Anthony J. Mancini, Dawn H. Siegel, Beth A. Drolet, Ilona J. Frieden, Alexander E. Urban, Denise W. Metry, Anthony E. Oro, Nicole S. Stefanko, Elizabeth S. Partan, Nara Sobreira, Xiaowei Zhu, Ioannis Karakikes, Chien-Wei Lin, Laksshman Sundaram, Olivia M. T. Davies, Kevin C. Wang
مصطلحات موضوعية: Pathogenesis, Proband, Whole genome sequencing, Genetics, Hemangioma, medicine, RASopathy, Biology, medicine.disease, Gene, PI3K/AKT/mTOR pathway, Germline
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef112275fc23ad11f25e2d2dafd2618cTest
https://doi.org/10.1101/2021.08.05.21261553Test -
2
المؤلفون: Thuy Phung, Denise W. Metry, Ionela Iacobas, Dolores Lopez-Terrada
المصدر: Cancer Genetics. 244:15
مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Unusual case, GNA11, Mutation (genetic algorithm), Genetics, medicine, Congenital Hemangioma, Biology, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57f59b61e60b312728a79816f1b931b6Test
https://doi.org/10.1016/j.cancergen.2020.04.044Test -
3
المؤلفون: Asunción Vicente, Christine Léauté-Labrèze, Hannah M Bombei, Eleonore Pairet, Laurence M. Boon, Carle Paul, David G. Brooks, Ilona J. Frieden, Anne M. Turner, Reed E. Pyeritz, Miikka Vikkula, Raphaël Helaers, David J. Amor, Juliette Dupont, Malin Kvarnung, Marcia C. Willing, Mustapha Amyere, Josée Dubois, Annouk Bisdorff, Shoji Watanabe, Denise W. Metry, Philippe Parent, Loreto Martorell, A. Phan, Ashley Wilson, Orli Wargon, John B. Mulliken, Aicha Salhi, Anne Dompmartin, Catherine McCuaig, Francine Blei, Pierre Vabres, Louanne Hudgins, Eulalia Baselga, María Antonia González-Enseñat, Marion Gérard, Isabelle Quéré, Andrea Hanson-Kahn, Maria R. Cordisco, Nicole Revencu, Wendy K. Chung, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Lisa Weibel, Florence Petit
المساهمون: Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Catholique de Louvain = Catholic University of Louvain (UCL)
المصدر: Circulation
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Circulation, American Heart Association, 2017, 136 (11), pp.1037-1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, MAP Kinase Signaling System, Port-Wine Stain, Receptor, EphB4, arteriovenous malformation, P120 GTPase Activating Protein, Genome-wide association study, Biology, Germline, capillary, Arteriovenous Malformations, 03 medical and health sciences, Germline mutation, Physiology (medical), Databases, Genetic, medicine, Humans, Missense mutation, genetics, arteriovenous fistula, Germ-Line Mutation, Loss function, Genetics, vascular endothelial function, venous, p120 GTPase Activating Protein, Arteriovenous malformation, vascular disease, medicine.disease, Capillaries, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Cardiology and Cardiovascular Medicine, linkage, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1251887ddfadee32b56bad98e2b76c1Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12677Test -
4
المؤلفون: Dina J. Zand, Jeffrey A. Cleveland, Patrick M. A. Sleiman, Denise W. Metry, Lifeng Tian, Eniko Papp, Hakon Hakonarson, Nada Abdel-Magid, Cecilia E. Kim, Yiran Guo, Sandra Catalina Camacho, Elaine H. Zackai, Dong Li, Elizabeth McPherson, Jean-Christophe Fournet, Guy Vaksmann, Cyril Morisot, Olga Camacho-Vanegas, Brendan J. Keating, Maria Celeste M. Ramirez, David B. Everman, Ben Tweddale, Frederick G. Otieno, Carrie Zabel, John A. Martignetti, Cuiping Hou, Audrey M. Bernstein, Sandra K. Masur
المصدر: The American Journal of Human Genetics. 92(6):1001-1007
مصطلحات موضوعية: Genetics, Candidate gene, Sequence analysis, Infantile myofibromatosis, PDGFRB, Biology, medicine.disease, medicine, Cancer research, Missense mutation, Base sequence, Tumor growth, Genetics(clinical), Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f973fceeac5e1e60209505167624baTest
-
5
المؤلفون: Pinar Bayrak-Toydemir, Francine Blei, Tracey Lewis, Ilona J. Frieden, Dawn H. Siegel, J. Fredrik Grimmer, Joseph T. Shieh, Sheri Mitchell, David A. Stevenson, Denise W. Metry, Beth A. Drolet, Hülya Kayserili
المصدر: American Journal of Medical Genetics Part A. :1363-1367
مصطلحات موضوعية: Genetics, DNA Copy Number Variations, Microarray, Neurocutaneous Syndromes, Haplotype, Chromosome, Locus (genetics), Biology, Article, Aortic Coarctation, Gene mapping, Aldehyde Reductase, Genetic Loci, Nucleotide Transport Proteins, Genetic predisposition, Humans, Eye Abnormalities, Copy-number variation, Disease-causing Mutation, Chromosome Deletion, Chromosomes, Human, Pair 7, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc9cd3203b3da07c8d5466bbf04d237Test
https://doi.org/10.1002/ajmg.a.35341Test -
6
المؤلفون: Aleda A Jacobs, Moise L. Levy, Christy Badgwell, Denise W. Metry
المصدر: Expert Review of Dermatology. 1:563-567
مصطلحات موضوعية: medicine.medical_specialty, integumentary system, biology, business.industry, Disease spectrum, Stevens johnson, Dermatology, Keratinocyte apoptosis, medicine.disease, High fever, Toxic epidermal necrolysis, Malaise, stomatognathic diseases, Immunology, Sore throat, medicine, biology.protein, medicine.symptom, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::187ec47eafb6ee036707d3e9258a7cd4Test
https://doi.org/10.1586/17469872.1.4.563Test -
7
المؤلفون: Denise W. Metry, Moise L. Levy, Peter Jung
المصدر: Pediatrics. 112:1430-1436
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Erythroderma, hemic and lymphatic diseases, medicine, Humans, Dosing, Drug reaction, Child, LYELL SYNDROME, integumentary system, biology, business.industry, Immunoglobulins, Intravenous, Infant, Stevens johnson, medicine.disease, Dermatology, Toxic epidermal necrolysis, Surgery, Clinical trial, stomatognathic diseases, Treatment Outcome, Stevens-Johnson Syndrome, Pediatrics, Perinatology and Child Health, biology.protein, Female, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3237ef6d556b989fe018ccde2f4a4918Test
https://doi.org/10.1542/peds.112.6.1430Test -
8
المؤلفون: Shalini N. Jhangiani, Asbjørg Stray-Pedersen, James R. Lupski, David M. Scollard, Emily M. Mace, Emmanuelle Jouanguy, Alison A. Bertuch, Marianna Sockrider, Amandine Crequer, Hanne Sørmo Sorte, Megan K. Dishop, Richard A. Gibbs, Judith R. Campbell, Denise W. Metry, Tomasz Gambin, Donna M. Muzny, Jean-Laurent Casanova, Jordan S. Orange, Betty S. Brown, Lenora M. Noroski, Ghadir S. Sasa
مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, Heterozygote, Molluscum Contagiosum, Adolescent, Immunology, Mucocutaneous zone, DNA Mutational Analysis, Tuberculoid leprosy, Biology, Compound heterozygosity, Article, Immunodeficiency Syndrome, medicine, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Child, Telomere Shortening, Skin, Molluscum contagiosum, Severe combined immunodeficiency, B-Lymphocytes, Granuloma, Mucous Membrane, Polymorphism, Genetic, Siblings, Microfilament Proteins, Papillomavirus Infections, Epidermodysplasia verruciformis, medicine.disease, Leprosy, Tuberculoid, Killer Cells, Natural, Epidermodysplasia Verruciformis, Mutation, Primary immunodeficiency, Female, Severe Combined Immunodeficiency, Immunologic Memory
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcb847cbb7a3bf3e480ac2a1b29cbbc2Test
https://europepmc.org/articles/PMC4386834Test/ -
9
المؤلفون: Denise W. Metry, James Barrish, John Hicks, Moise L. Levy
المصدر: Ultrastructural Pathology. 25:99-103
مصطلحات موضوعية: Ectodermal dysplasia, Pathology, medicine.medical_specialty, integumentary system, Uncombable hair syndrome, Heart shape, Uncombable hair, Anatomy, Biology, medicine.disease, Pathology and Forensic Medicine, medicine.anatomical_structure, Structural Biology, Loose Anagen Hair Syndrome, Dysplasia, Scalp, otorhinolaryngologic diseases, medicine, symbols, symbols.heraldic_charge, Retinal dysplasia, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2a83e38c9c2b5090130e14d2bb7f259Test
https://doi.org/10.1080/01913120117514Test -
10
المؤلفون: Susan J. Hayflick, Pui-Yan Kwok, William B. Dobyns, Pinar Bayrak-Toydemir, Sheri Mitchell, Beth A. Drolet, Beth Wilmot, Elizabeth A. Worthey, Elena Pope, Rachel Lorier, Johannes Fredrik Grimmer, Shannon K. McWeeney, Maria R. Cordisco, Denise W. Metry, Ulrich Broeckel, Eun Kyung M. Kwon, Jennifer L. Santoro, Francine Blei, David A. Stevenson, Ilona J. Frieden, Kelly J. Duffy, Joseph T. Shieh, Dawn H. Siegel, Alfons Krol, Andrea Matter, David L Gibbs, Maria C. Garzon, Eulalia Baselga
المصدر: JOURNAL OF INVESTIGATIVE DERMATOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Journal of investigative dermatologyمصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, Genotyping Techniques, Coarctation of the aorta, Dermatology, Biology, Biochemistry, Article, Aortic Coarctation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Posterior fossa malformations, Dna genetics, medicine, Humans, Copy-number variation, Eye Abnormalities, Child, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, PHACE syndrome, Neurocutaneous Syndromes, Extramural, copy number variation, Infant, Reproducibility of Results, Cell Biology, DNA, PHACES syndrome, medicine.disease, Pascual-Castroviejo II syndrome, Xq28, Eye abnormality, hemangioma, aortic arch anomaly, Case-Control Studies, Child, Preschool, Female, 030217 neurology & neurosurgery, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78df36f82e0645e2d1db25a0e751193Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10857Test
