المؤلفون: van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH

مؤلفون مشاركون: Dutch NIPT consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1344.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mannens MMAM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Lombardi MP; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Henneman P; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Bliek J; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

المصدر: Frontiers in genetics [Front Genet] 2022 Jul 04; Vol. 13, pp. 831452. Date of Electronic Publication: 2022 Jul 04 (Print Publication: 2022).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

المؤلفون: Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Dijk F; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Waanders E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Peer SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bladergroen R; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Morgado LM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Bliek J; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Lombardi MP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Drost J; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Oncode Institute, Utrecht, the Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 Jun 10; Vol. 40 (17), pp. 1892-1902. Date of Electronic Publication: 2022 Mar 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/pathology , Kidney Neoplasms*/epidemiology , Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology , Wilms Tumor*/epidemiology , Wilms Tumor*/genetics , Wilms Tumor*/pathology, Adult ; Causality ; Child ; Genetic Predisposition to Disease ; Genomics ; Germ-Line Mutation ; Humans ; Prevalence

المؤلفون: Mackay DJG; Faculty of Medicine,University of Southampton,Southampton SO17 1BJ,UKandWessex Regional Genetics Laboratory,Salisbury SP2 8BJ,UK., Bliek J; Department of Clinical Genetics,Academic Medical Center,University of Amsterdam,Amsterdam,The Netherlands., Lombardi MP; Department of Clinical Genetics,Academic Medical Center,University of Amsterdam,Amsterdam,The Netherlands., Russo S; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy., Calzari L; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy., Guzzetti S; Medical Cytogenetics and Molecular Genetics Laboratory,Centro di Ricerche e Tecnologie Biomediche IRCCS,Istituto Auxologico Italiano,Milan,Italy., Izzi C; Prenatal Diagnosis Unit,Department of Obstetrics and Gynecology,ASST Spedali Civili of Brescia,Brescia,Italy., Selicorni A; Pediatric Unit,ASST Lariana Como,Como,Italy., Melis D; Department of Pediatrics,University 'Federico II',Napoli,Italy., Temple K; Faculty of Medicine,University of Southampton,Southampton SO17 1BJ,UKandWessex Regional Genetics Laboratory,Salisbury SP2 8BJ,UK., Maher E; Department of Medical Genetics,University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre,Cambridge Biomedical Campus,Cambridge,UK., Brioude F; Sorbonne Université,INSERM,UMR 938, Centre de Recherche Saint-Antoine (CRSA),APHP Hôpital Trousseau,75012 Paris,France., Netchine I; Sorbonne Université,INSERM,UMR 938, Centre de Recherche Saint-Antoine (CRSA),APHP Hôpital Trousseau,75012 Paris,France., Eggermann T; Institute of Human Genetics, University Hospital, Technical University of Aachen,Aachen,Germany.

المصدر: Genetics research [Genet Res (Camb)] 2019 Mar 04; Vol. 101, pp. e3. Date of Electronic Publication: 2019 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hindawi in collaboration with Cambridge University Press Country of Publication: England NLM ID: 101550220 Publication Model: Electronic Cited Medium: Internet ISSN: 1469-5073 (Electronic) Linking ISSN: 00166723 NLM ISO Abbreviation: Genet Res (Camb) Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome/*genetics , Silver-Russell Syndrome/*genetics, Beckwith-Wiedemann Syndrome/diagnosis ; Chromosomes, Human, Pair 11/genetics ; DNA Methylation ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Humans ; Phenotype ; Silver-Russell Syndrome/diagnosis

المؤلفون: Severino-Freire M; Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, 31059 Toulouse cedex 9, France. maella.severino@hotmail.fr., Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J

المصدر: Acta dermato-venereologica [Acta Derm Venereol] 2017 Jul 06; Vol. 97 (7), pp. 853-854.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MJS Publishing Country of Publication: Sweden NLM ID: 0370310 Publication Model: Print Cited Medium: Internet ISSN: 1651-2057 (Electronic) Linking ISSN: 00015555 NLM ISO Abbreviation: Acta Derm Venereol Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion* , Mosaicism* , Mutation*, Acyltransferases/*genetics , Focal Dermal Hypoplasia/*genetics , Membrane Proteins/*genetics , Skin/*pathology, Adolescent ; DNA Mutational Analysis ; Female ; Focal Dermal Hypoplasia/enzymology ; Focal Dermal Hypoplasia/pathology ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Phenotype ; Young Adult

المؤلفون: Mary L; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Scheidecker S; Laboratoire de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Kohler M; Service de Gynécologie et Obstétrique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Lombardi MP; Department of Clinical Genetics, Academisch Medisch Centrum, Amsterdam, The Netherlands., Delezoide AL; Service de Biologie du Développement, Hôpital Robert Debré, Paris, France., Auberger E; Anatomie et Cytologie Pathologiques, Hôpital Simone Veil, Groupement Hospitalier Eaubonne-Montmorency, Montmorency, France., Triau S; Laboratoire de Pathologie Cellulaire et Tissulaire-Fœtopathologie, Centre Hospitalier Universitaire d'Angers, Angers, France., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France., Gerard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France., Grzeschik KH; Institut für Allgemeine Humangenetik, Philipps-Universitaet, Marburg, Germany., Dollfus H; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Faculté de Médecine de Strasbourg, Strasbourg, France., Antal MC; Faculté de Médecine de Strasbourg, Strasbourg, France.; Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Fédération de Médecine Translationnelle, Strasbourg, France.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Feb; Vol. 173 (2), pp. 479-486. Date of Electronic Publication: 2016 Sep 13.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Focal Dermal Hypoplasia/*diagnosis , Focal Dermal Hypoplasia/*genetics, Abortion, Induced ; Acyltransferases/genetics ; Autopsy ; DNA Mutational Analysis ; Female ; Fetus/abnormalities ; Genetic Association Studies ; Genetic Testing ; Genotype ; Humans ; Male ; Membrane Proteins/genetics ; Mutation ; Phenotype ; Prenatal Diagnosis ; Radiography ; Ultrasonography, Prenatal

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