المؤلفون: Maria Mansouri, Fatima Zohra Bouzid, Said Amal, Oufae Hocar, Nissrine Aboussair

المصدر: Indian Journal of Dermatology, Vol 68, Iss 1, Pp 122-122 (2023)

مصطلحات موضوعية: ectodermal manifestations, focal dermal hypoplasia, porcn gene, x-linked dominant disease, Dermatology, RL1-803

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=1;spage=122;epage=122;aulast=Mansouri; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611; https://doaj.org/article/776a9cc7aeb24dbcb8ff4bc8e926e297

الاتاحة: https://doi.org/10.4103/ijd.ijd_508_22
https://doaj.org/article/776a9cc7aeb24dbcb8ff4bc8e926e297

المؤلفون: Stefan Gysin, Peter Itin

المصدر: Case Reports in Dermatology, Vol 7, Iss 2, Pp 90-94 (2015)

مصطلحات موضوعية: Focal dermal hypoplasia, Goltz-Gorlin syndrome, Blaschko lines, PORCN gene, Enamel defects, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.karger.com/Article/FullText/430781; https://doaj.org/toc/1662-6567

URL الوصول: https://doaj.org/article/98e612ce5bfa48f5bc74272b6549ba36

المؤلفون: Dimitris Chatzianastassiou, Karin Popovic Silwerfeldt, Catherine Grandpeix-Guyodo, Irina Magnusson, Tobias Laurell, Sofia Frisk, Ann Nordgren, Helgi Thor Hjartarson

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Case Report, General Medicine, Case Reports, medicine.disease, Syndrome patient, Dermatology, Phenotype, Focal dermal hypoplasia, PORCN, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Clinical report, focal dermal hypoplasia, male, Male patient, PORCN gene, Medicine, Goltz syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920b3ae680262649409ab4f75c1475f4
http://europepmc.org/articles/PMC6230642

المؤلفون: Fay Khoja, Sohad Hindi, Sahar Hasan Alsharif

المصدر: Case Reports in Dermatology
Case Reports in Dermatology, Vol 10, Iss 2, Pp 101-109 (2018)

مصطلحات موضوعية: X-linked dominant condition, business.industry, Single Case, Ectoderm, 030206 dentistry, Dermatology, Anatomy, lcsh:RL1-803, medicine.disease, Hypoplasia, Focal dermal hypoplasia, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Scalp, medicine, lcsh:Dermatology, PORCN gene, Goltz syndrome, Endoderm, Sparse hair, Abnormality, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f6f1e0e12b6fafa02cfa8f4930d755
http://europepmc.org/articles/PMC5981586

المؤلفون: John R. Waterson, Edward J. Lammer, Bryant A. Toth, James T. Lu, V. Reid Sutton, Philippe M. Campeau, Ignatia B. Van den Veyver, Simran Madan, Richard A. Gibbs, Wei Liu, Brendan Lee, Priscilla Joe

المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 57-61 (2017)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Biology, Asymptomatic, PORCN, 03 medical and health sciences, Endocrinology, Genetics, medicine, Goltz syndrome, MULTIPLE MALFORMATIONS, Heterozygous carrier, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Non-mosaic, medicine.disease, Focal dermal hypoplasia, 030104 developmental biology, lcsh:Biology (General), In utero, Mutation (genetic algorithm), Micro-opthalmia, PORCN gene, medicine.symptom, lcsh:Medicine (General)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8658a4588e28c093e886a221ce407270
https://doi.org/10.1016/j.ymgmr.2017.06.002

المؤلفون: Liliana Chacon, Luis E. Becerra-Solano, Eunice López-Muñoz, Efrain Monroy-Marquez, Dinorah Morales-Mata, José Elías García-Ortiz

المصدر: International Journal of Clinical Pediatrics. 6:28-32

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Focal dermal hypoplasia syndrome, Soft tissue, medicine.disease, Focal dermal hypoplasia, Female patient, medicine, PORCN gene, Clinical case, business, Novel mutation, Deleterious mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::73f0f59b7c25dbeb29926bbcb9878fbe
https://doi.org/10.14740/ijcp277w

المؤلفون: Lu Liu, Halil Gürhan Karabulut, Ceren D. Durmaz, John A. McGrath

المصدر: Cytogenetic and Genome Research. 154:119-121

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ectrodactyly, Genodermatosis, Biology, medicine.disease, Short stature, Focal dermal hypoplasia, Frameshift mutation, PORCN, Eye abnormality, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, PORCN gene, medicine.symptom, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80f47735f9107a4c6f42b51cd97bf872
https://doi.org/10.1159/000487580

المؤلفون: Jorge E. Chavarro, Ming Ding, Beverly J. Wolpert, André O. Markon

المصدر: Curr Dev Nutr

مصطلحات موضوعية: African american, Consumption (economics), Nutrition and Dietetics, Energy (esotericism), Medicine (miscellaneous), Binge drinking, Overweight, Drug usage, Marijuana use, Environmental health, medicine, Nutritional Epidemiology, PORCN gene, medicine.symptom, Psychology, Food Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd45c010a9f4226db997bad1729e611
https://doi.org/10.1093/cdn/nzaa061_077

المؤلفون: Mary Fete, Timothy J. Fete

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:3-6

مصطلحات موضوعية: International research, medicine.medical_specialty, Pathology, Tissue Repository, business.industry, Guideline, medicine.disease, Research findings, Dermatology, Focal dermal hypoplasia, PORCN, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Medical genetics, PORCN gene, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::314778f1f488a740c539f8591e4e6588
https://doi.org/10.1002/ajmg.c.31475

المؤلفون: Isolina Riaño-Galán, Rosa Patricia Arias-Llorente, Aranzazu López-Martínez, Cristina Rodriguez-Dehli

المصدر: Fetal and Pediatric Pathology. 34:375-382

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ectrodactyly, Rectum, Pathology and Forensic Medicine, medicine, Humans, Point Mutation, business.industry, Point mutation, Infant, Newborn, Membrane Proteins, General Medicine, Prognosis, medicine.disease, Anus, Skeleton (computer programming), Focal dermal hypoplasia, PORCN, Focal Dermal Hypoplasia, Early Diagnosis, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, PORCN gene, Female, business, Acyltransferases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750af9c7bef4266d69dd5f4e49eb0fcd
https://doi.org/10.3109/15513815.2015.1095257

المؤلفون: Sabrina Eichler, Arndt Rolfs, Harry Pachajoa, Andrés Felipe Ramírez-Botero

المصدر: Congenital Anomalies. 56:138-140

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Embryology, Pathology, medicine.medical_specialty, Mutation, integumentary system, business.industry, Genetic counseling, General Medicine, medicine.disease_cause, medicine.disease, Focal dermal hypoplasia, PORCN, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Intellectual disability, medicine, PORCN gene, MULTIPLE MALFORMATIONS, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::85c8f461c84eda9e1475148b54cd1505
https://doi.org/10.1111/cga.12146

المؤلفون: Renee Perrier, Tess Peters, Richard M. Haber

المصدر: Pediatric Dermatology. 31:220-224

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Meningomyelocele, Central nervous system, Dermatology, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, Genetic testing, integumentary system, medicine.diagnostic_test, business.industry, Infant, Newborn, Syndrome, medicine.disease, Focal dermal hypoplasia, Arnold-Chiari Malformation, Hydrocephalus, Focal Dermal Hypoplasia, Phenotype, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, PORCN gene, Arnold chiari, business, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f1e602abf2a439332678a13201820da
https://doi.org/10.1111/pde.12267

المؤلفون: David Orchard, Zornitza Stark, Anita L Lasocki

المصدر: Australasian Journal of Dermatology. 52:48-51

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Genodermatosis, Dysostosis, Dermatology, medicine.disease, Focal dermal hypoplasia, Male patient, Dysplasia, Clinical diagnosis, Medicine, PORCN gene, business, X-linked dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad8e86d70f4196f3cf573b61dc6d010e
https://doi.org/10.1111/j.1440-0960.2010.00662.x

المؤلفون: Edward A. Bittner, Edward George, Matthias Eikermann, Ulrich Schmidt, Warren S. Sandberg, Arielle Butterly

المصدر: British Journal of Anaesthesia. 105:304-309

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Medizin, Neuromuscular Junction, Neuromuscular transmission, Postoperative residual curarization, Pacu, Young Adult, Humans, Medicine, In patient, Postoperative Period, Prospective Studies, Aged, Monitoring, Physiologic, Aged, 80 and over, Neuromuscular Blockade, Vecuronium Bromide, biology, business.industry, Length of Stay, Middle Aged, biology.organism_classification, medicine.disease, Neuromuscular Blocking Agents, Surgery, Anesthesiology and Pain Medicine, Anesthesia, Anesthesia Recovery Period, Atracurium, PORCN gene, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f44457e472151acc394185735529fd
https://doi.org/10.1093/bja/aeq157

المؤلفون: S. T. Holden, Jemima E. Mellerio, Suzanne E. Clements, J. McCauley, John A. McGrath

المصدر: British Journal of Dermatology. 160:1103-1109

مصطلحات موضوعية: Adult, Genotype, DNA Mutational Analysis, Locus (genetics), Dermatology, Biology, DNA sequencing, Young Adult, X Chromosome Inactivation, medicine, Humans, Point Mutation, Genetics, Wnt signaling pathway, Membrane Proteins, Dysostosis, medicine.disease, Focal dermal hypoplasia, Pedigree, PORCN, Focal Dermal Hypoplasia, Phenotype, Giant cell, PORCN gene, Female, Acyltransferases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cbd1f3f81b8d6b27a5cb2ad53d9217
https://doi.org/10.1111/j.1365-2133.2009.09048.x

المؤلفون: Saskia M. Maas, A. J. van Essen, Maria Paola Lombardi, Karin Writzl, Emma Wakeling, I K Temple, V K A Kumar, Raoul C.M. Hennekam, Bruce Castle

المساهمون: Human Genetics, Paediatric Genetics, Amsterdam Neuroscience, Amsterdam Public Health, Faculteit der Geneeskunde

المصدر: Journal of medical genetics, 46(10), 716-720. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 46(10), 716-720. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 46(10), 716-720. BMJ Publishing Group

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, Nonsense mutation, Germline mosaicism, Biology, BODY-WALL COMPLEX, PORCN GENE, Frameshift mutation, TO-DAUGHTER TRANSMISSION, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), FATHER, Infant, Newborn, Dysostosis, Infant, Membrane Proteins, DEFECTS, Middle Aged, medicine.disease, Focal dermal hypoplasia, LIMB, PORCN, Pentalogy of Cantrell, DEFICIENCY, Phenotype, DEPENDENT PROBE AMPLIFICATION, Child, Preschool, FOCAL DERMAL HYPOPLASIA, Mutation, Female, INACTIVATION, Acyltransferases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84f6dd6839049d3d3ea446833849b15
https://hdl.handle.net/11245/1.321334

المؤلفون: Oana-Diana Persa, Iliana Tantcheva-Poor, Judith Fischer

المصدر: JAMA dermatology. 152(2)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, media_common.quotation_subject, X-Linked Genetic Diseases, Infant, Newborn, Scars, Papule, Dermatology, Infant newborn, Infant, Newborn, Diseases, Surgery, Focal Dermal Hypoplasia, 03 medical and health sciences, Cicatrix, 030104 developmental biology, medicine, PORCN gene, Humans, Female, Girl, medicine.symptom, business, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b06b193667af5a206e5d164397bff00c
https://pubmed.ncbi.nlm.nih.gov/26629878

المؤلفون: Garavelli, Livia, LONGO, Caterina, Simonte, Graziella, Rosato, Simonetta, Wischmeijer, Anita, Albertini, Enrico, Guareschi, Elisa, Albertini, Giuseppe, Gelmini, Chiara, Greco, Chiara, Errico, Stefania, Savino, Gustavo, Pavanello, Marco, Happle, Rudolf, Unger, Sheila, Superti Furga, Andrea, Grzeschik, Karl Heinz

المساهمون: Garavelli, Livia, Simonte, Graziella, Rosato, Simonetta, Wischmeijer, Anita, Albertini, Enrico, Guareschi, Elisa, Longo, Caterina, Albertini, Giuseppe, Gelmini, Chiara, Greco, Chiara, Errico, Stefania, Savino, Gustavo, Pavanello, Marco, Happle, Rudolf, Unger, Sheila, Superti Furga, Andrea, Grzeschik, Karl Heinz

مصطلحات موضوعية: Cystic malformation of the spinal cord, FDH, Focal dermal hypoplasia, Goltz-Gorlin syndrome, PORCN gene, Genetics (clinical), Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/23696273; info:eu-repo/semantics/altIdentifier/wos/WOS:000320650100034; volume:161; issue:7; firstpage:1750; lastpage:1754; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11380/1140881; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879459462

الاتاحة: http://hdl.handle.net/11380/1140881
https://doi.org/10.1002/ajmg.a.35964

المؤلفون: Stefania Errico, Gustavo Savino, Giuseppe Albertini, Enrico Albertini, Marco Pavanello, Livia Garavelli, Caterina Longo, Chiara Greco, Chiara Gelmini, Karl Heinz Grzeschik, Simonetta Rosato, Anita Wischmeijer, Rudolf Happle, Andrea Superti-Furga, Graziella Simonte, Sheila Unger, Elisa Guareschi

المصدر: American journal of medical genetics. Part A. (7)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Goltz–Gorlin syndrome, FDH, Mutation, Missense, cystic malformation of the spinal cord, medicine.disease_cause, Spinal Cord Diseases, Pregnancy, Genetics, medicine, Missense mutation, Humans, Microphthalmos, PORCN gene, Genetics (clinical), focal dermal hypoplasia, Mutation, business.industry, Cysts, Cystic malformation of the spinal cord, Focal dermal hypoplasia, Goltz-Gorlin syndrome, Dural ectasia, Settore MED/30 - MALATTIE APPARATO VISIVO, Infant, Newborn, Infant, Membrane Proteins, Anatomy, medicine.disease, Spinal cord, PORCN, Focal Dermal Hypoplasia, medicine.anatomical_structure, Orbital cyst, Child, Preschool, Female, business, Acyltransferases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2795bdbf92e5541e21d0618180602d62
https://pubmed.ncbi.nlm.nih.gov/23696273

المؤلفون: Maas, S. M., Lombardi, M. P., van Essen, A. J., Wakeling, E. L., Castle, B., Temple, I. K., Kumar, V. K. A., Writzl, K., Hennekam, Raoul C. M.

المصدر: Maas , S M , Lombardi , M P , van Essen , A J , Wakeling , E L , Castle , B , Temple , I K , Kumar , V K A , Writzl , K & Hennekam , R C M 2009 , ' Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome ' , Journal of Medical Genetics , vol. 46 , no. 10 , pp. 716-720 . https://doi.org/10.1136/jmg.2009.068403

مصطلحات موضوعية: FOCAL DERMAL HYPOPLASIA, BODY-WALL COMPLEX, DEPENDENT PROBE AMPLIFICATION, TO-DAUGHTER TRANSMISSION, PORCN GENE, LIMB, DEFECTS, FATHER, INACTIVATION, DEFICIENCY

الاتاحة: https://hdl.handle.net/11370/d8f9d9d0-7d30-4de4-9315-ba7b8dd71c44
https://research.rug.nl/en/publications/d8f9d9d0-7d30-4de4-9315-ba7b8dd71c44
https://doi.org/10.1136/jmg.2009.068403