المؤلفون: S Thomas, Catherine Mercer, IK Temple, D Seviar, Anthony P. Williams, David Hunt

المصدر: British Academy of Childhood Disability and British Association for Community Child Health.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Prenatal diagnosis, Disease, Geneticist, medicine.disease, Bioinformatics, Genome, Intellectual disability, Mutation (genetic algorithm), medicine, Personalized medicine, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b71b252351fd5708ca27f9800a47785
https://doi.org/10.1136/archdischild-2017-313087.493

المؤلفون: Dm, Eccles, Ie, Moore, Cook S, Dr, Griffin, lyn chitty, Cm, Hall, Ik, Temple

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Fetus, Palate, Pregnancy, Limb Deformities, Congenital, Humans, Abnormalities, Multiple, Ear, Extremities, Female, Ultrasonography, Prenatal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d9918e866688bc5e1ebee5e650e855b3
https://pubmed.ncbi.nlm.nih.gov/8055140

المؤلفون: Nicola S. Cooper, S Samant, H Purnell, Claire L. S. Turner, A Vandersteen, Alex Magee, Susan Tomkins, Louise C. Wilson, L Greenhalgh, IK Temple, Irina Colgiu, A Duncan, G Cross, Susan E. Holder, C Wragg, Deirdre E. Donnelly, Nadia Akawi, Linda Sneddon, Eamonn Sheridan, Wendy D Jones, I Ellis, David Bourn, Joanna Poulton, Ingrid Simonic, R Singzon, Lisa Bradley, Matthew E. Hurles, Meena Balasubramanian, Dominic J. McMullan, Trevor Cole, Gillian Roberts, J Thomson, Moira Blyth, G Hollingsworth, Neeti Ghali, Alex Henderson, Zara Skitt, E Roberts, G Woods, David Goudie, J Awada, Caroline Langman, U Anjum, Martin O. Pollard, Usha Kini, Stephen Clayton, J Burn, Daniel M Barrett, Vka Kumar, Angela E. Douglas, Natalie Canham, Ruth Armstrong, Denise Williams, C Shaw-Smith, Lorraine Gaunt, S Ingram, Edward Blair, K Brunstrom, O. W.J. Quarrell, Ben Hutton, Nora Shannon, S Wallwark, Laura E Mason, Sarah F. Smithson, Jeremy F. McRae, Amanda L. Collins, Shane McKee, Katrina Prescott, Lara Cresswell, Sofia Douzgou, L Islam, C Deshpande, J Waters, Anna Middleton, S-M Park, Tarjinder Singh, Liu He, M Tein, T Fendick, B Kaemba, Tara Montgomery, Michael Wright, Jenny Morton, J Roberts, Emma Hobson, Caroline Mackie Ogilvie, Katrina Tatton-Brown, Lucy Jenkins, A Coates, Abhijit Dixit, Deborah J. Shears, Kath Smith, D. Baty, D Lim, D Cilliers, Richard Gibbons, Ruth Newbury-Ecob, M Squires, Nicola K. Ragge, Anneke Seller, E Kivuva, Kay Metcalfe, Fiona Stewart, K Marks, Elisabeth Rosser, R Fisher, Andrew E. Fry, Joan Paterson, Diana Wellesley, Dian Donnai, Christopher P. Bennett, Jonathan Berg, Ganesh J. Swaminathan, Lucy Raymond, Sally Ann Lynch, Pradeep C. Vasudevan, Rosemarie Davidson, Melita Irving, John Dean, Margo Whiteford, Melissa Lees, S Payne, K-R Ong, Emma Gray, M Holder, Dragana Josifova, Claire Kirk, McConnell, Helen Cox, Sarju G. Mehta, Elena Prigmore, Emma Shearing, Anand Saggar, Angela Barnicoat, Alejandro Sifrim, Nicola Foulds, Katherine Martin, Joanna Kaplanis, Sahar Mansour, Kirsty Ambridge, Clowes, A Procter, Z Miedzybrodzka, Katherine Lachlan, S Schweiger, E Maher, Allyson Ross, Simon Brent, C Sequeira, Tabib Dabir, Netravathi Krishnappa, Andrew Smith, B Bernhard, Andrew Green, Sara Widaa, Daniel A. King, Astrid Weber, Harinder Gill, Frances Flinter, Ruth McGowan, Siddharth Banka, Susan E. McNerlan, Elizabeth M. Sweeney, L Nevitt, Michael Parker, Hood Mugalaasi, AP Bevan, L Harrison, Varghese, Lucy Hildyard, Murday, G Kirby, S Clasper, Sutton, Clare Taylor, Andrew Jackson, A Selby, E Wilkinson, Miranda Splitt, Stuart Aitken, Shelagh Joss, Fiona Connell, Julie Vogt, Jill Clayton-Smith, Alan Fryer, N Pratt, Parthiban Vijayarangakannan, Shehla Mohammed, Susan Price, Wayne Lam, Peter D. Turnpenny, C Tysoe, Raheleh Rahbari, Marc Tischkowitz, N Williams, Tessa Homfray, Maria Bitner-Glindzicz, Helen Murphy, Meriel M. McEntagart, Sian Ellard, M Ahmed, R O'Shea, Andrew R. Norman, Daniel Perrett, Harrison, Philip Greene, David Moore, R Hawkins, DT Pilz, FitzPatrick, P Batstone, Esther Kinning, Caroline F. Wright, Yanick J. Crow, Kate Chandler, C Donnelly, Leema Robert, Straub, Susan M. Gribble, Philip Jones, D de Vries, K Evans, Simon J. Davies, Diana Baralle, E Miles, Jeffrey C. Barrett, A Lampe, Joshua C. Randall, Bruce Castle, K McKay, D Rice, Becky Treacy, Richard H Scott, Rosemary Kelsell, Angela F. Brady, Julian R. Sampson, J Jarvis, Laura Yates, R Sandford, Hayley Archer, M Yau, Mohnish Suri, Caroline Pottinger, Dhavendra Kumar, R. Taylor, Alison Kraus, L Bourdon, Alan Donaldson, S Everest, S Kazembe, Sian Morgan, C Longman, Ingrid Scurr, Alison Male, Ajoy Sarkar, Helen Kingston, Emma McCann, Julie M. Phipps, Andrea H. Németh, A Pridham, D Bohanna, C Gardiner, Diana Johnson, Tomas W Fitzgerald, Eleni A. Chatzimichali, A Dobbie, Diana Rajan, Frances Elmslie, Mohsan Alvi, Pendaran Roberts, Bronwyn Kerr, M D'Alessandro, Elizabeth A. Jones, Simon Holden, U Maye, Helen V. Firth, J Rankin, H. Stewart, S Naik, Adrian Tivey, Chirag N. Patel, Tanya Bayzetinova, G Lowther, G Devlin, A Torokwa, DJ Bunyan, Judith A. Goodship, Sarah Hewitt, Emma Wakeling, Christoffer Nellåker, S Wilcox, Saba Sharif, MN Collinson, C Brewer, Jacqueline Eason, C McWilliam, Jane A. Hurst, Angus John Clarke, Mervyn Humphreys, Stephen W. Hellens

المصدر: bioRxiv

مصطلحات موضوعية: Genetics, 0303 health sciences, education.field_of_study, Genetic heterogeneity, Population, Biology, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, education, Indel, Gene, Exome, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bb4561c3a9591c4a2949e1c96f759e
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdf

المؤلفون: Rj, Gardner, Aj, Mungall, Ian Dunham, Jc, Barber, Jp, Shield, Ik, Temple, Do, Robinson

المصدر: Europe PubMed Central

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7edb1418baf6615d783d8802b537f128
http://europepmc.org/abstract/med/10204843

المؤلفون: Lokulo-Sodipe O; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton., Inskip HM; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; MRC Epidemiology Unit, Faculty of Medicine, University of Southampton, Southampton.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust., Byrne CD; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust., Child J; Child Growth Foundation, c/o Kinnair Associates Limited, Aston House, Redburn Road, Newcastle, NE5 1NB, UK., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street London WC1N 3JH., Mackay DJG; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Salisbury., Temple IK; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; The Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, Southampton., Davies JH; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Feb 08. Date of Electronic Publication: 2024 Feb 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

المؤلفون: Alhendi ASN; Faculty of Medicine, University of Southampton, UK., Gazdagh G; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Lim D; Birmingham Women's and Children's Foundation Trust, UK., McMullan D; Birmingham Women's and Children's Foundation Trust, UK., Wright M; Newcastle Hospitals NHS Foundation Trust, UK., Temple IK; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Davies JH; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Mackay DJG; Faculty of Medicine, University of Southampton, UK.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 383-388. Date of Electronic Publication: 2023 Oct 18.

نوع المنشور: Case Reports

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: Genomic Imprinting*/genetics , Uniparental Disomy*, Infant, Newborn ; Humans ; Animals ; Mice ; Transcription Factors/genetics ; Cell Cycle Proteins/genetics ; Tumor Suppressor Proteins/genetics

المؤلفون: Yordanova N; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Iotova V; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Mackay DJG; Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Temple IK; Faculty of Medicine, University of Southampton, Southampton, UK., Stoyanova S; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Hachmeriyan M; Dept. of Medical Genetics, Medical University - Varna, Bulgaria.

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Feb 02. Date of Electronic Publication: 2023 Feb 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

المؤلفون: Mackay D; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Bliek J; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Tenorio-Castano J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain., Brioude F; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Netchine I; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Papingi D; Institute of Human Genetics, University of Hamburg, Hamburg, Germany., de Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Lever M; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Sillibourne J; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Lombardi P; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Gaston V; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Tauber M; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Diene G; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Bieth E; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Fernandez L; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Riccio A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Naples, Italy., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK., Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tannorella P; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., de Nanclares GP; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Temple IK; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK., Ogata T; Department of Pediatrics, Hamamatsu Medical Center and Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.

المصدر: Clinical epigenetics [Clin Epigenetics] 2022 Nov 07; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2022 Nov 07.

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

بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics, Humans ; Genomic Imprinting ; DNA Methylation ; Growth Disorders/genetics ; Diagnostic Techniques and Procedures

المؤلفون: Lokulo-Sodipe O; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Giabicani E; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France., Canton APM; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France.; Division of Endocrinology & Metabolism, Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics/LIM42, Clinical Hospital, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil., Ferrand N; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany., Child J; Child Growth Foundation, Sutton Coldfield, UK., Wakeling EL; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Binder G; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany., Netchine I; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France., Mackay DJG; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK., Inskip HM; MRC Epidemiology Unit, Faculty of Medicine University of Southampton, Southampton, UK., Byrne CD; Cancer Sciences, Faculty of Medicine University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Temple IK; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Davies JH; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2022 Sep; Vol. 97 (3), pp. 284-292. Date of Electronic Publication: 2022 Mar 21.

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

بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

مواضيع طبية MeSH: Body Height* , Body Mass Index* , Human Growth Hormone*/therapeutic use , Silver-Russell Syndrome*/drug therapy, Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

المؤلفون: Alhendi ASN; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Lim D; Department of Clinical Genetics, Birmingham Women's and Children's Hospital, Birmingham, UK., McKee S; Department of Genetic Medicine, Belfast City Hospital, Belfast, UK., McEntagart M; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK., Tatton-Brown K; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK., Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Davies JH; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Mackay DJG; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK djgm@soton.ac.uk.; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.

المصدر: Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 613-622. Date of Electronic Publication: 2021 Jun 16.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics, DNA Methylation ; Female ; Genomic Imprinting/genetics ; Humans ; Maternal Inheritance ; Pregnancy ; Uniparental Disomy