Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Saved in:
| Title: | Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome. |
|---|---|
| Authors: | Poch A; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA. Electronic address: alexandra.m.poch@gmail.com., Dougherty MP; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Roman RA; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Chorich L; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Hawkins Z; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Kim SH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, United Kingdom., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Center, Hamad Bin Khalifa University, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Layman LC; Section of Reproductive Endocrinology, 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. 112224. Date of Electronic Publication: 2024 Apr 07. |
| 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 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38593951 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Poch+A%22">Poch A</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA. Electronic address: alexandra.m.poch@gmail.com.<br /><searchLink fieldCode="AU" term="%22Dougherty+MP%22">Dougherty MP</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Roman+RA%22">Roman RA</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Chorich+L%22">Chorich L</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Hawkins+Z%22">Hawkins Z</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+SH%22">Kim SH</searchLink>; Molecular and Clinical Sciences Research Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Center, Hamad Bin Khalifa University, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; Section of Reproductive Endocrinology, 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. 112224. <i>Date of Electronic Publication: </i>2024 Apr 07. – 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=38593951 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.mce.2024.112224 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 112224 Titles: – TitleFull: Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Poch A – PersonEntity: Name: NameFull: Dougherty MP – PersonEntity: Name: NameFull: Roman RA – PersonEntity: Name: NameFull: Chorich L – PersonEntity: Name: NameFull: Hawkins Z – PersonEntity: Name: NameFull: Kim SH – PersonEntity: Name: NameFull: Kim HG – 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 |
| ResultId | 1 |