المؤلفون: Pettersson, M, Grochowski, CM, Wincent, J, Eisfeldt, J, Breman, AM, Cheung, SW, Krepischi, ACV, Rosenberg, C, Lupski, JR, Ottosson, J, Lovmar, L, Gacic, J, Lundberg, ES, Nilsson, D, Carvalho, CMB, Lindstrand, A

المصدر: Human mutation. 41(11):1979-1998

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144811583

المؤلفون: Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD

المصدر: Prenatal Diagnosis; Oct2008, Vol. 28 Issue 10, p943-949, 7p

المؤلفون: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., de Ravel TJL; Centre for Human Genetics, UZ Leuven/Leuven University Hospitals, Leuven, Belgium., Fusaro V; Invitae, San Francisco, CA, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, USA., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Korenke GC; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Humberson J; University of Virginia Health System, Charlottesville, VA, USA., Napier MP; GeneDx, Gaithersburg, MD, USA., Hoffman J; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, USA., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA., Rockowitz S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dortenzio V; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Divison of Neurology, Boston Children's Hospital, Boston, MA, USA., Rothfelder K; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, USA; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: philip.boone@childrens.harvard.edu.

المصدر: HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100273. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: De Lange Syndrome*/genetics , Intellectual Disability*/genetics, Humans ; Cell Cycle Proteins/genetics ; Chondroitin Sulfate Proteoglycans/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Heterozygote ; Mutation ; Phenotype

المؤلفون: Bellair M; Luna Genetics, Houston, Texas, USA., Amaral E; Luna Genetics, Houston, Texas, USA., Ouren M; Luna Genetics, Houston, Texas, USA., Roark C; Luna Genetics, Houston, Texas, USA., Kim J; Luna Genetics, Houston, Texas, USA., O'Connor A; Luna Genetics, Houston, Texas, USA., Soriano A; Luna Genetics, Houston, Texas, USA., Schindler ML; Luna Genetics, Houston, Texas, USA., Wapner RJ; Columbia University Irving Medical Center, New York, New York, USA., Stone JL; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Tavella N; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Merriam A; Yale School of Medicine, New Haven, Connecticut, USA., Perley L; Yale School of Medicine, New Haven, Connecticut, USA., Breman AM; Indiana University School of Medicine, Indianapolis, Indiana, USA., Beaudet AL; Luna Genetics, Houston, Texas, USA.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 304-316. Date of Electronic Publication: 2024 Feb 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Placenta* , Prenatal Diagnosis*/methods, Pregnancy ; Humans ; Female ; Amniocentesis ; Aneuploidy ; Mosaicism ; Genetic Testing

المؤلفون: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE., Fusaro V; Invitae, San Francisco, CA, US., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, US., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Humberson J; University of Virginia Health System, Charlottesville, VA, US., Napier MP; GeneDx, Gaithersburg, MD, US., Hoffman J; GeneDx, Gaithersburg, MD, US., Juusola J; GeneDx, Gaithersburg, MD, US., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US., Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US., Rothfelder K; Zentrum für Humangenetik, Tübingen, DE., Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Hilton S; Manchester University, Manchester, UK., Banka S; Manchester University, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE., Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Shugg T; Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States., Ly RC; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Osei W; Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States., Rowe EJ; Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States., Granfield CA; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Lynnes TC; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Medeiros EB; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Hodge JC; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Breman AM; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Schneider BP; Division of Hematology/Oncology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States., Sahinalp SC; Center for Cancer Research, National Cancer Institute, National Institute of Health, Bethesda, MD, United States., Numanagić I; Department of Computer Science, University of Victoria, Victoria, BC, Canada., Salisbury BA; LifeOmic Inc., Indianapolis, IN, United States., Bray SM; LifeOmic Inc., Indianapolis, IN, United States., Ratcliff R; LifeOmic Inc., Indianapolis, IN, United States., Skaar TC; Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.

المصدر: Frontiers in oncology [Front Oncol] 2023 Jul 04; Vol. 13, pp. 1199741. Date of Electronic Publication: 2023 Jul 04 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

المؤلفون: Iwata-Otsubo A; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA., Klee VH; Department of Neurology, Section of Child Neurology Indiana University School of Medicine Indianapolis Indiana USA., Ahmad AA; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA., Walsh LE; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.; Department of Neurology, Section of Child Neurology Indiana University School of Medicine Indianapolis Indiana USA.; Department of Pediatrics Indiana University School of Medicine Indianapolis Indiana USA., Breman AM; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA.

المصدر: Clinical case reports [Clin Case Rep] 2022 Nov 19; Vol. 10 (11), pp. e6535. Date of Electronic Publication: 2022 Nov 19 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE

المؤلفون: Richardson B; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Fitzgerald-Butt SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Spoonamore KG; Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, IN, USA., Wetherill L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Epidemiology, Fairbanks School of Public Health, Indiana University, Indianapolis, IN, USA., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

المصدر: Journal of genetic counseling [J Genet Couns] 2022 Apr; Vol. 31 (2), pp. 479-488. Date of Electronic Publication: 2021 Sep 27.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Counselors*, Duty to Recontact ; Genetic Counseling/methods ; Genetic Testing ; Humans ; Surveys and Questionnaires ; United States

المؤلفون: Badar SA; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Christensen CK; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Division of Developmental Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Golomb MR; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

المصدر: Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (1-2), pp. 40-45. Date of Electronic Publication: 2022 Feb 09.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Autistic Disorder*/genetics, Chromosome Duplication/genetics ; Chromosomes, Human, Pair 16/genetics ; Databases, Genetic ; Female ; Humans ; Male ; Parents ; Phenotype

المؤلفون: Yang N; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China., Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dong S; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China., Zhang L; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China., Zhao Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Chen W; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Du R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Song C; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China., Ren X; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China., Liu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA., Liu Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China., Rao J; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Wang C; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Zhao S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Baylor Genetics, Houston, Texas, USA., Xue H; Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Sun H; Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Shen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Zhang S; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Xu H; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Jin L; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China., Zhang J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Baylor Genetics, Houston, Texas, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Qiu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Wu Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Zhang F; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address: zhangfeng@fudan.edu.cn.

المصدر: Kidney international [Kidney Int] 2020 Oct; Vol. 98 (4), pp. 1020-1030. Date of Electronic Publication: 2020 May 22.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Scoliosis*, Animals ; Humans ; Kidney ; Mice ; Retrospective Studies ; T-Box Domain Proteins/genetics ; Urogenital Abnormalities ; Vesico-Ureteral Reflux

SCR Disease Name: Cakut