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Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, André; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A; Dietrich, Jennifer E; Dimas, Antigone S; Liu, Pengfei; Antonarakis, Stylianos E; Brucker, Sara Y; Posey, Jennifer E; Lupski, James R; Wu, Nan; Zhu, Lan.
  • Ma C; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Chen N; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX.
  • Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Tian W; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Kang J; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Ye Y; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wang Y; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Koch A; Department of Gynecology and Obstetrics, Research Centre for Women's Health, Tübingen University Hospital, Tübingen, Germany.
  • Zhang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China;
  • Qin C; Department of Obstetrics and Gynecology, The 3rd Affiliated Hospital of Shenzhen University, Luohu Hospital, Shenzhen, Guangdong, China.
  • Bonilla X; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Borel C; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Rall K; Department of Gynecology and Obstetrics, Research Centre for Women's Health, Tübingen University Hospital, Tübingen, Germany.
  • Chen Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China.
  • Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
  • Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Li X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Qiu G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China;
  • Zhang S; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Luo G; Department of Obstetrics and Gynecology, The 3rd Affiliated Hospital of Shenzhen University, Luohu Hospital, Shenzhen, Guangdong, China.
  • Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center, Peking Union Medical College Hospital, Peking Union Med
  • Bacopoulou F; Center for Adolescent Medicine and UNESCO Chair in Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
  • Deligeoroglou E; Division of Pediatric-Adolescent Gynecology and Reconstructive Surgery, 2nd Department of Obstetrics and Gynecology, School of Medicine, National and Kapodistrian University of Athens, Aretaieion Hospital, Athens, Greece.
  • Zhang TJ; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China;
  • Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
  • Dietrich JE; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Department of Obstetrics and Gynecology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.
  • Dimas AS; Institute for Bioinnovation, Biomedical Sciences Research Center Alexander Fleming, Vari, Athens, Greece.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland.
  • Brucker SY; Department of Gynecology and Obstetrics, Research Centre for Women's Health, Tübingen University Hospital, Tübingen, Germany.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.
  • Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, 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, Beijing, China;
  • Zhu L; Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. El
Genet Med ; 24(11): 2262-2273, 2022 11.
Article en En | MEDLINE | ID: mdl-36112137
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Trastornos del Desarrollo Sexual 46, XX Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Trastornos del Desarrollo Sexual 46, XX Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article