Search Results - "Layman LC"

Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.

Authors: Zhong Q Layman LC Zhong, Quincy et al.

Source: Fertility & Sterility. Oct2012, Vol. 98 Issue 4, p775-779. 5p.

Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.

Authors: Layman LC Lee EJ Peak DB et al.

Source: New England Journal of Medicine. 08/28/97, Vol. 337 Issue 9, p607-611. 5p.

Sex differences in cardiovascular disease risk in type 1 diabetes: The vascular bed paradox in women.

Authors: Simon AB Trivedi D Blackburn M et al.

Source: Diabetes & vascular disease research [Diab Vasc Dis Res] 2026 May-Jun; Vol. 23 (3), pp. 14791641261454510. Date of Electronic Publication: 2026 May 30.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Sage Publications Country of Publication: England NLM ID: 101234011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8984 (Electronic) Linking ISSN: 14791641 NLM ISO Abbreviation: Diab Vasc Dis Res Subsets: MEDLINE

Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.

Authors: Grater L Hawkins Z Ben-Mahmoud A et al.

Source: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists [Endocr Pract] 2026 May; Vol. 32 (5), pp. 704-709. Date of Electronic Publication: 2026 Jan 30.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9607439 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1530-891X (Print) Linking ISSN: 1530891X NLM ISO Abbreviation: Endocr Pract Subsets: MEDLINE

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Authors: Ghasemi MR Fateh ST Ben-Mahmoud A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63963. Date of Electronic Publication: 2024 Dec 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.

Authors: Kwal JM Chorich LP Navitski A et al.

Source: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2026 Mar; Vol. 43 (3), pp. 931-937. Date of Electronic Publication: 2025 Dec 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE

Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Authors: Kira D Brakta S Kim HG et al.

Source: Human genetics [Hum Genet] 2026 Feb 03; Vol. 145 (1), pp. 18. Date of Electronic Publication: 2026 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Clinical Genetics in Reproductive Medicine: Variant Classification, Medically Actionable Genes, and Carrier Screening.

Authors: Navitski A Layman LC

Source: Seminars in reproductive medicine [Semin Reprod Med] 2025 Dec; Vol. 43 (4), pp. 243-253. Date of Electronic Publication: 2026 Mar 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Thieme Medical Publishers Country of Publication: United States NLM ID: 100909394 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-4564 (Electronic) Linking ISSN: 15264564 NLM ISO Abbreviation: Semin Reprod Med Subsets: MEDLINE

Genetics in Reproduction.

Authors: Layman LC; Section of Reproductive Endocrine, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia at Augusta University, Augusta, Georgia.

Source: Seminars in reproductive medicine [Semin Reprod Med] 2025 Dec; Vol. 43 (4), pp. 241-242. Date of Electronic Publication: 2026 Apr 08.

Publication Type: Journal Article

Journal Info: Publisher: Thieme Medical Publishers Country of Publication: United States NLM ID: 100909394 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-4564 (Electronic) Linking ISSN: 15264564 NLM ISO Abbreviation: Semin Reprod Med Subsets: MEDLINE; In Process

Clinical Testing for Genetic Conditions.

Authors: Kim HG Brakta S Ben-Mahmoud A et al.

Source: Seminars in reproductive medicine [Semin Reprod Med] 2025 Dec; Vol. 43 (4), pp. 254-263. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article; Review

Journal Info: Publisher: Thieme Medical Publishers Country of Publication: United States NLM ID: 100909394 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-4564 (Electronic) Linking ISSN: 15264564 NLM ISO Abbreviation: Semin Reprod Med Subsets: MEDLINE

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Authors: Ghasemi MR Sadeghi H Hashemi-Gorji F et al.

Source: BMC medical genomics [BMC Med Genomics] 2024 Aug 05; Vol. 17 (1), pp. 196. Date of Electronic Publication: 2024 Aug 05.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Authors: Susgun S Ben-Mahmoud A Rüschendorf F et al.

Source: Human mutation [Hum Mutat] 2024 Jan 05; Vol. 2024, pp. 5518289. Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

Authors: Gupta V Ben-Mahmoud A Ku B et al.

Source: Frontiers in psychiatry [Front Psychiatry] 2023 Oct 31; Vol. 14, pp. 1251884. Date of Electronic Publication: 2023 Oct 31 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101545006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-0640 (Print) Linking ISSN: 16640640 NLM ISO Abbreviation: Front Psychiatry Subsets: PubMed not MEDLINE

Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes.

Authors: Simon AB Derella CC Blackburn M et al.

Source: Cardiovascular diabetology [Cardiovasc Diabetol] 2023 Sep 07; Vol. 22 (1), pp. 243. Date of Electronic Publication: 2023 Sep 07.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101147637 Publication Model: Electronic Cited Medium: Internet ISSN: 1475-2840 (Electronic) Linking ISSN: 14752840 NLM ISO Abbreviation: Cardiovasc Diabetol Subsets: MEDLINE

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

Authors: Brakta S Hawkins ZA Sahajpal N et al.

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

Publication Type: Journal Article

Journal Info: 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

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Authors: Ben-Mahmoud A Jun KR Gupta V et al.

Source: Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Oct 06; Vol. 15, pp. 979061. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

Ovotesticular Disorders of sexual development (DSD): A rare case of peritoneal carcinomatosis in an elderly DSD male patient.

Authors: Navitski A Sehgal S Ballur K et al.

Source: Gynecologic oncology reports [Gynecol Oncol Rep] 2024 Sep 24; Vol. 56, pp. 101515. Date of Electronic Publication: 2024 Sep 24 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101652231 Publication Model: eCollection Cited Medium: Print ISSN: 2352-5789 (Print) Linking ISSN: 23525789 NLM ISO Abbreviation: Gynecol Oncol Rep Subsets: PubMed not MEDLINE

Identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women.

Authors: Theisen JG Chorich LP Xu H et al.

Source: F&S science [F S Sci] 2024 Aug; Vol. 5 (3), pp. 283-292. Date of Electronic Publication: 2024 Jun 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101765857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-335X (Electronic) Linking ISSN: 2666335X NLM ISO Abbreviation: F S Sci Subsets: MEDLINE

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Authors: Poch A Dougherty MP Roman RA et al.

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

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.

Authors: Brakta S Du Q Chorich LP et al.

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