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

المؤلفون: Denise W. Metry, Jack E. Steiner, Mohit Maheshwari, William B. Dobyns, Garrett N. McCoy, Beth A. Drolet, Dawn H. Siegel, Christopher P. Hess

المصدر: American journal of medical genetics. Part A, vol 176, iss 1

مصطلحات موضوعية: Male, Pituitary gland, Congenital, 0302 clinical medicine, magnetic resonance imaging, Medicine, Eye Abnormalities, Cerebellar hypoplasia, Genetics (clinical), Pediatric, PHACE syndrome, screening and diagnosis, Neurocutaneous Syndromes, medicine.diagnostic_test, pituitary gland, Brain, Magnetic Resonance Imaging, Detection, Phenotype, medicine.anatomical_structure, Pituitary Gland, Neurological, Optic nerve, Biomedical Imaging, Female, Radiology, Abnormalities, Multiple, medicine.medical_specialty, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, brain malformations, Fourth ventricle, Article, Aortic Coarctation, 03 medical and health sciences, Rare Diseases, Neuroimaging, Clinical Research, 030225 pediatrics, Internal medicine, Genetics, Humans, Abnormalities, Multiple, business.industry, Neurosciences, Infant, Newborn, Meninges, Infant, Magnetic resonance imaging, Newborn, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Orphan Drug, Endocrinology, Congenital Structural Anomalies, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b39166a2ae336157b556135b1d4ab59Test
https://doi.org/10.1002/ajmg.a.38523Test

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

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
Publons

مصطلحات 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

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

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

المؤلفون: William B. Dobyns, Beth A. Drolet, Francine Blei, Denise W. Metry, Dawn H. Siegel, Susan L. Christian, Joseph T. Shieh, Ilona J. Frieden, C.T. Sullivan, Alfons Krol

المصدر: Molecular syndromology, vol 4, iss 3

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinical Sciences, Coarctation of the aorta, Locus (genetics), X-inactivation, Posterior fossa anomaly, Hemangioma, Congenital, Rare Diseases, Clinical Research, Random pattern, medicine, Genetics, Genetic Testing, Head and neck, Genetics (clinical), Pediatric, PHACE syndrome, Genetic heterogeneity, business.industry, Human Genome, medicine.disease, Cardiac defects, Original Article, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7a0299ecd77f3d1e0302bc78d56608Test
https://escholarship.org/uc/item/8h7234hdTest

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 dermatology

مصطلحات 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

المؤلفون: Sarah L. Chamlin, Amy J. Nopper, Eulalia Baselga, Geoffrey L. Heyer, Kimberly A. Horii, Anne W. Lucky, Beth A. Drolet, Maria C. Garzon, Anita N. Haggstrom, Ilona J. Frieden, Brandon D. Newell, Denise W. Metry, Anthony J. Mancini

المصدر: American journal of medical genetics. Part A. 140(9)

مصطلحات موضوعية: Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Eye Diseases, Hemangioma, Cohort Studies, Genetics, medicine, Pediatric stroke, Humans, Abnormalities, Multiple, Prospective Studies, Prospective cohort study, Child, Ear Diseases, Stroke, Genetics (clinical), business.industry, Neurocutaneous Syndromes, Brain, Infant, Syndrome, medicine.disease, Airway Obstruction, Child, Preschool, Cohort, Etiology, Female, PHACES Syndrome, Facial Neoplasms, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4678e4cda7d7c93e5ba20deb6b220889Test
https://pubmed.ncbi.nlm.nih.gov/16575892Test