Search Results - "Chorich LP"

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

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

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

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

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.

Authors: Castro MAA Dos Santos JHV Honjo RS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3916-3923. Date of Electronic Publication: 2021 Aug 18.

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

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

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Authors: Mikhael S Dugar S Morton M et al.

Source: Human genetics [Hum Genet] 2021 Apr; Vol. 140 (4), pp. 667-680. Date of Electronic Publication: 2021 Jan 19.

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

Investigation of subfertility in the female Nsmf knockout mouse.

Authors: Louden ED Dougherty MP Chorich LP et al.

Source: F&S science [F S Sci] 2023 Nov; Vol. 4 (4), pp. 286-293. Date of Electronic Publication: 2023 Jul 27.

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

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

Unexplained Female Infertility Associated with Genetic Disease Variants.

Authors: Dougherty MP Poch AM Chorich LP et al.

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

Publication Type: Letter; Research Support, U.S. Gov't, P.H.S.

Journal Info: 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

Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.

Authors: Brakta S Chorich LP Kim HG et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 May 01; Vol. 105 (5).

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants.

Authors: Theisen JG Sundaram V Filchak MS et al.

Source: Scientific reports [Sci Rep] 2019 Dec 27; Vol. 9 (1), pp. 20099. Date of Electronic Publication: 2019 Dec 27.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Authors: Pedersen-White JR Chorich LP Bick DP et al.

Source: Molecular human reproduction [Mol Hum Reprod] 2008 Jun; Vol. 14 (6), pp. 367-70. Date of Electronic Publication: 2008 May 07.

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

Journal Info: Publisher: Oxford University Press for the European Society for Human Reproduction and Embryology Country of Publication: England NLM ID: 9513710 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2407 (Electronic) Linking ISSN: 13609947 NLM ISO Abbreviation: Mol Hum Reprod Subsets: MEDLINE

Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism.

Authors: Park JK Ozata M Chorich LP et al.

Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2004 Jan; Vol. 60 (1), pp. 147-9.

Publication Type: Letter; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print Cited Medium: Print ISSN: 0300-0664 (Print) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons.

Authors: Ko EK Chorich LP Sullivan ME et al.

Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2018 Jul 15; Vol. 470, pp. 151-159. Date of Electronic Publication: 2017 Oct 16.

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

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

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Authors: Demir Eksi D Shen Y Erman M et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2018 Feb 03; Vol. 11, pp. 13. Date of Electronic Publication: 2018 Feb 03 (Print Publication: 2018).

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: eCollection Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Authors: Williams LS Demir Eksi D Shen Y et al.

Source: Fertility and sterility [Fertil Steril] 2017 Jul; Vol. 108 (1), pp. 145-151.e2. Date of Electronic Publication: 2017 Jun 07.

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

Journal Info: Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-5653 (Electronic) Linking ISSN: 00150282 NLM ISO Abbreviation: Fertil Steril Subsets: MEDLINE

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Authors: Quaynor SD Bosley ME Duckworth CG et al.

Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2016 Dec 05; Vol. 437, pp. 86-96. Date of Electronic Publication: 2016 Aug 05.

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

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

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.

Authors: Williams LS Kim HG Kalscheuer VM et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2016 Jul 30; Vol. 9, pp. 57. Date of Electronic Publication: 2016 Jul 30 (Print Publication: 2016).

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: eCollection Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

NELF knockout is associated with impaired pubertal development and subfertility.

Authors: Quaynor SD Ko EK Chorich LP et al.

Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2015 May 15; Vol. 407, pp. 26-36. Date of Electronic Publication: 2015 Feb 27.

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

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

Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences.

Authors: Dobek WA Kim HG Walls CA et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2015 Feb 22; Vol. 8, pp. 13. Date of Electronic Publication: 2015 Feb 22 (Print Publication: 2015).

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: eCollection Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE