المؤلفون: Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Dolzhenko E; Pacific Biosciences, Menlo Park, CA, USA., Nageshwaran SK; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia., Scriba CK; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Roth V; Laboratoire de Génétique, CHRU de Nancy, Nancy, France., Wandzel M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France., Bonnet C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Agarwal A; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peter C; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hasson D; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Tsankova NM; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dewar K; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Lamont PJ; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia., Laing NG; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Renaud M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA., Napierala M; Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China., Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Akbarian S; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA., Eberle MA; Pacific Biosciences, Menlo Park, CA, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. m.danzi@med.miami.edu.

مؤلفون مشاركون: All of Us Research Program Long Read Working Group

المصدر: Nature genetics [Nat Genet] 2024 Jul; Vol. 56 (7), pp. 1366-1370. Date of Electronic Publication: 2024 Jun 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Fibroblast Growth Factors*/genetics , Fibroblast Growth Factors*/metabolism , Alleles*, Humans ; Haplotypes ; Genetic Variation ; Genetic Loci

المؤلفون: Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Wang X; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Mackay L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Goldsmith C; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Liang Y; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Lambert C; PacBio of California, Inc, Menlo Park, California, USA., Zhang S; PacBio of California, Inc, Menlo Park, California, USA., Dhillon H; PacBio of California, Inc, Menlo Park, California, USA., Fanslow C; PacBio of California, Inc, Menlo Park, California, USA., Rowell WJ; PacBio of California, Inc, Menlo Park, California, USA., Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Ottawa, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

مؤلفون مشاركون: Care4Rare Canada Consortium; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63522. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

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: Retroelements*/genetics , Disorder of Sex Development, 46,XY*/genetics, Humans ; Mutation ; Introns/genetics ; Rare Diseases/genetics ; Sexual Development ; Steroidogenic Factor 1/genetics

المؤلفون: Casazza W; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital, Vancouver, BC, Canada.; Bioinformatics Graduate Program, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Inkster AM; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Del Gobbo GF; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Yuan V; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Delahaye F; Albert Einstein College of Medicine, The Bronx, NY, USA., Marsit C; Rollins School of Public Health, Emory University, Atlanta, GA, USA., Park YP; Department of Statistics, University of British Columbia, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Robinson WP; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Mostafavi S; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital, Vancouver, BC, Canada.; Paul Allen School of Computer Science and Engineering, University of Washington, Seattle, WA, USA., Dennis JK; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital, Vancouver, BC, Canada.; Bioinformatics Graduate Program, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

المصدر: IScience [iScience] 2024 Jan 26; Vol. 27 (2), pp. 109047. Date of Electronic Publication: 2024 Jan 26 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

المؤلفون: Khan A; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, M5G 1L7, Canada.; Princess Margaret Cancer Center, Toronto, ON, M5G 2C4, Canada., Inkster AM; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Peñaherrera MS; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., King S; Department of Psychiatry, McGill University, Montreal, QC, H3A 1A1, Canada.; Psychosocial Research Division, Douglas Hospital Research Centre, Montreal, QC, H4H 1R3, Canada., Kildea S; Mater Research Institute, University of Queensland, Brisbane, QLD, 4101, Australia.; Molly Wardaguga Research Centre, Charles Darwin University, Brisbane, QLD, 4000, Australia., Oberlander TF; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; School of Population and Public Health, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, BC, V6H 3V4, Canada., Olson DM; Department of Obstetrics and Gynecology, University of Alberta, 220 HMRC, Edmonton, AB, T6G 2S2, Canada., Vaillancourt C; Centre Armand Frappier Santé Biotechnologie - INRS and University of Quebec Intersectorial Health Research Network, Laval, QC, H7V 1B7, Canada., Brain U; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; School of Population and Public Health, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, BC, V6H 3V4, Canada., Beraldo EO; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Beristain AG; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Obstetrics & Gynecology, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada., Clifton VL; Mater Research Institute, University of Queensland, Brisbane, QLD, 4101, Australia.; Faculty of Medicine, The University of Queensland, Herston, QLD, 4006, Australia., Del Gobbo GF; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada., Lam WL; British Columbia Cancer Research Centre, Vancouver, BC, V5Z 1L3, Canada., Metz GAS; Canadian Centre for Behavioural Neuroscience, Department of Neuroscience, University of Lethbridge, Lethbridge, AB, T1K 3M4, Canada., Ng JWY; Faculty of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada., Price EM; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada., Schuetz JM; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Yuan V; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Portales-Casamar É; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada. elodie.portales-casamar.hsj@ssss.gouv.qc.ca.; Centre de Recherche du CHU Sainte-Justine, 3175 Côte-Sainte-Catherine Road, Montréal, QC, H3T 1C5, Canada. elodie.portales-casamar.hsj@ssss.gouv.qc.ca., Robinson WP; BC Children's Hospital Research Institute (BCCHR), 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada. wrobinson@bcchr.ca.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada. wrobinson@bcchr.ca.

المصدر: Epigenetics & chromatin [Epigenetics Chromatin] 2023 Oct 04; Vol. 16 (1), pp. 37. Date of Electronic Publication: 2023 Oct 04.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101471619 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-8935 (Electronic) Linking ISSN: 17568935 NLM ISO Abbreviation: Epigenetics Chromatin Subsets: MEDLINE

مواضيع طبية MeSH: Placenta*/metabolism , DNA Methylation*, Humans ; Pregnancy ; Female ; Infant, Newborn ; Epigenesis, Genetic ; Gestational Age ; Genome

المؤلفون: Khan A; BC Children's Hospital Research Institute (BCCHR)., Inkster AM; BC Children's Hospital Research Institute (BCCHR)., Peñaherrera MS; BC Children's Hospital Research Institute (BCCHR)., King S; McGill University., Kildea S; University of Queensland., Oberlander TF; BC Children's Hospital Research Institute (BCCHR)., Olson DM; University of Alberta., Vaillancourt C; Centre Armand Frappier Santé Biotechnologie - INRS and University of Quebec Intersectorial Health Research Network., Brain U; BC Children's Hospital Research Institute (BCCHR)., Beraldo EO; BC Children's Hospital Research Institute (BCCHR)., Beristain AG; BC Children's Hospital Research Institute (BCCHR)., Clifton VL; University of Queensland., Del Gobbo GF; BC Children's Hospital Research Institute (BCCHR)., Lam WL; British Columbia Cancer Research Centre., Metz GA; University of Lethbridge., Ng JW; University of Calgary., Price EM; BC Children's Hospital Research Institute (BCCHR)., Schuetz JM; BC Children's Hospital Research Institute (BCCHR)., Yuan V; BC Children's Hospital Research Institute (BCCHR)., Portales-Casamar É; BC Children's Hospital Research Institute (BCCHR)., Robinson WP; BC Children's Hospital Research Institute (BCCHR).

المصدر: Research square [Res Sq] 2023 Jun 26. Date of Electronic Publication: 2023 Jun 26.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

المؤلفون: Robinson WP; British Columbia (BC) Children's Hospital Research Institute, 950 W 28th Ave., Vancouver V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, 4500 Oak St., Vancouver V6H 3N1, Canada. Electronic address: wrobinson@bcchr.ca., Del Gobbo GF; British Columbia (BC) Children's Hospital Research Institute, 950 W 28th Ave., Vancouver V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, 4500 Oak St., Vancouver V6H 3N1, Canada.

المصدر: Trends in molecular medicine [Trends Mol Med] 2021 Aug; Vol. 27 (8), pp. 721-722. Date of Electronic Publication: 2021 May 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 100966035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-499X (Electronic) Linking ISSN: 14714914 NLM ISO Abbreviation: Trends Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Embryonic Development*/genetics , Mosaicism* , Mutation*, Placenta/*physiology, DNA Damage ; Female ; Humans ; Placentation ; Pregnancy ; Trophoblasts/metabolism

المؤلفون: Del Gobbo GF; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Yuan V; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Robinson WP; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1908-1912. Date of Electronic Publication: 2021 Mar 22.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

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: Mosaicism*, Fetal Growth Retardation/*genetics , Kisspeptins/*genetics , Renin/*genetics, DNA Copy Number Variations/genetics ; Female ; Fetal Growth Retardation/pathology ; Gene Duplication/genetics ; Humans ; Infant, Newborn ; Male ; Placenta/pathology ; Placenta/ultrastructure ; Pregnancy

المؤلفون: Del Gobbo GF; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, 4500 Oak St, Vancouver, V6H 3N1, Canada., Yin Y; Genetics and Genome Biology Program, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada., Choufani S; Genetics and Genome Biology Program, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada., Butcher EA; Genetics and Genome Biology Program, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada., Wei J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada., Rajcan-Separovic E; Department of Pathology and Laboratory Medicine, University of British Columbia, 2211 Wesbrook Mall, Vancouver, V6T 2B5, Canada., Bos H; Department of Perinatology, Victoria General Hospital, 1 Hospital Way, Victoria, V8Z 6R5, Canada.; Department of Obstetrics & Gynecology, University of British Columbia, Suite 930, 1125 Howe St, Vancouver, BC, V6Z 2K8, Canada., von Dadelszen P; Department of Women and Children's Health, School of Life Course Sciences, King's College London, London, SE1 7EU, UK., Weksberg R; Genetics and Genome Biology Program, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, 1 King's College Circle, Toronto, M5S 1A8, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Suite 940, 525 University Avenue, Toronto, ON, M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada., Robinson WP; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, V5Z 4H4, Canada. wrobinson@bcchr.ca.; Department of Medical Genetics, University of British Columbia, 4500 Oak St, Vancouver, V6H 3N1, Canada. wrobinson@bcchr.ca., Yuen RKC; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, 686 Bay St, Toronto, M5G 0A4, Canada. ryan.yuen@sickkids.ca.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, M5S 1A8, Canada. ryan.yuen@sickkids.ca.

المصدر: Molecular medicine (Cambridge, Mass.) [Mol Med] 2021 Jan 07; Vol. 27 (1), pp. 3. Date of Electronic Publication: 2021 Jan 07.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Microsatellite Instability*, Fetal Growth Retardation/*genetics , Placenta/*chemistry, Aneuploidy ; Case-Control Studies ; Cytogenetic Analysis/methods ; Female ; Genomic Imprinting ; Genotyping Techniques ; Humans ; Infant, Newborn ; Infant, Small for Gestational Age ; Male ; Mosaicism ; Oligonucleotide Array Sequence Analysis/methods ; Pregnancy

المؤلفون: Del Gobbo GF; BC Children's Hospital Research Institute, 950 West 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada., Konwar C; BC Children's Hospital Research Institute, 950 West 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada., Robinson WP; BC Children's Hospital Research Institute, 950 West 28th Ave, Vancouver, BC, V5Z 4H4, Canada. wrobinson@bcchr.ca.; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada. wrobinson@bcchr.ca.

المصدر: Human genetics [Hum Genet] 2020 Sep; Vol. 139 (9), pp. 1183-1196. Date of Electronic Publication: 2019 Sep 25.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Maternal Health*, Epigenome/*genetics , Genome, Human/*genetics , Placenta/*physiopathology , Pregnancy Complications/*genetics, Female ; Fetal Development/genetics ; Fetal Development/physiology ; Fetal Growth Retardation/genetics ; Fetus/physiology ; Humans ; Infant, Newborn ; Placenta/cytology ; Pre-Eclampsia/genetics ; Pregnancy ; Premature Birth/genetics

المؤلفون: Konwar C; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Del Gobbo GF; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Terry J; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.; Department of Pathology, BC Children's Hospital, Vancouver, BC, V6H 3N1, Canada., Robinson WP; BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada. wrobinson@bcchr.ca.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada. wrobinson@bcchr.ca.

المصدر: BMC medical genetics [BMC Med Genet] 2019 Feb 22; Vol. 20 (1), pp. 36. Date of Electronic Publication: 2019 Feb 22.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet

مواضيع طبية MeSH: DNA Methylation* , Down-Regulation* , Polymorphism, Single Nucleotide*, Chorioamnionitis/*genetics , Interleukin-6/*genetics , Placenta/*chemistry, Binding Sites ; Case-Control Studies ; CpG Islands ; Epigenesis, Genetic ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Interleukin-6/metabolism ; Male ; Maternal Age ; Pregnancy