Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
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| Title: | Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. |
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| Authors: | 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. |
| Source: | Molecular and cellular endocrinology [Mol Cell Endocrinol] 2024 Aug 01; Vol. 589, pp. 112237. Date of Electronic Publication: 2024 Apr 08. |
| Publication Type: | Journal Article |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38599276 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Brakta+S%22">Brakta S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Du+Q%22">Du Q</searchLink>; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Chorich+LP%22">Chorich LP</searchLink>; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Hawkins+ZA%22">Hawkins ZA</searchLink>; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+ME%22">Sullivan ME</searchLink>; University of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Ko+EK%22">Ko EK</searchLink>; University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Knight+J%22">Knight J</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+HS%22">Taylor HS</searchLink>; Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Friez+M%22">Friez M</searchLink>; Greenwood Genetics Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Phillips+JA+3rd%22">Phillips JA 3rd</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227500844%22">Molecular and cellular endocrinology</searchLink> [Mol Cell Endocrinol] 2024 Aug 01; Vol. 589, pp. 112237. <i>Date of Electronic Publication: </i>2024 Apr 08. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22North+Holland+Publishing%22">North Holland Publishing </searchLink><i>Country of Publication: </i>Ireland <i>NLM ID: </i>7500844 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-8057 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203037207%22">03037207 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cell Endocrinol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38599276 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.mce.2024.112237 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 112237 Titles: – TitleFull: Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Brakta S – PersonEntity: Name: NameFull: Du Q – PersonEntity: Name: NameFull: Chorich LP – PersonEntity: Name: NameFull: Hawkins ZA – PersonEntity: Name: NameFull: Sullivan ME – PersonEntity: Name: NameFull: Ko EK – PersonEntity: Name: NameFull: Kim HG – PersonEntity: Name: NameFull: Knight J – PersonEntity: Name: NameFull: Taylor HS – PersonEntity: Name: NameFull: Friez M – PersonEntity: Name: NameFull: Phillips JA 3rd – PersonEntity: Name: NameFull: Layman LC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2024 Aug 01 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1872-8057 Numbering: – Type: volume Value: 589 Titles: – TitleFull: Molecular and cellular endocrinology Type: main |
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