المؤلفون: Brakta S; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA. Electronic address: sbrakta@augusta.edu., Du Q; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA., Chorich LP; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Hawkins ZA; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Sullivan ME; University of Pittsburgh, Pittsburgh, PA, USA., Ko EK; University of Pennsylvania, Philadelphia, PA, USA., Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway, NJ, USA., Knight J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Taylor HS; Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA., Friez M; Greenwood Genetics Center, Greenwood, SC, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA., Layman LC; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA.

المصدر: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2024 Aug 01; Vol. 589, pp. 112237. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: North Holland Publishing Country of Publication: Ireland NLM ID: 7500844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8057 (Electronic) Linking ISSN: 03037207 NLM ISO Abbreviation: Mol Cell Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: 46, XX Disorders of Sex Development*/genetics , Chromosomes, Human, Pair 17*/genetics , Congenital Abnormalities*/genetics , Heterozygote* , Mullerian Ducts*/abnormalities, Adolescent ; Adult ; Female ; Humans ; Pedigree

SCR Disease Name: Mullerian aplasia

المؤلفون: Brakta S; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. sbrakta@augusta.edu., Hawkins ZA; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Sahajpal N; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.; Department of Genetics, Greenwood Genetics Center, Greenwood, SC, USA., Seman N; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Kira D; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Chorich LP; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Xu H; Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, Georgia., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia., Layman LC; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.

المصدر: Human genetics [Hum Genet] 2023 Apr; Vol. 142 (4), pp. 483-494. Date of Electronic Publication: 2023 Feb 17.

نوع المنشور: Journal Article

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: Mosaicism* , Congenital Abnormalities*/genetics, Humans ; In Situ Hybridization, Fluorescence ; Aneuploidy ; Chromosome Mapping

SCR Disease Name: Mullerian aplasia

المؤلفون: Dougherty MP; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Poch AM; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Chorich LP; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Hawkins ZA; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Xu H; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Roman RA; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Liu H; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Brakta S; Medical College of Georgia at Augusta University, Augusta, GA 31dougherty@gmail.com., Taylor HS; Yale School of Medicine, New Haven, CT., Knight J; Yale School of Medicine, New Haven, CT., Kim HG; Hamad Bin Khalifa University, Doha, Qatar., Diamond MP; Medical College of Georgia at Augusta University, Augusta, GA., Layman LC; Medical College of Georgia at Augusta University, Augusta, GA.

المصدر: The New England journal of medicine [N Engl J Med] 2023 Mar 16; Vol. 388 (11), pp. 1055-1056.

نوع المنشور: Letter

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Infertility, Female*/etiology , Infertility, Female*/genetics , Genetic Diseases, Inborn*/complications , Genetic Diseases, Inborn*/genetics, Female ; Humans ; Fertilization in Vitro ; Infertility/etiology ; Infertility/genetics