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Lawrence C Layman

Explore the profile of Lawrence C Layman including associated specialties, affiliations and a list of published articles. Areas
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Articles 96
Citations 1649
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Recent Articles
11.
Lee J, Kim Y, Ataliotis P, Kim H, Kim D, Bennett D, et al.
Sci Rep . 2023 Jul; 13(1):12309. PMID: 37516749
WDR11, a gene associated with Kallmann syndrome, is important in reproductive system development but molecular understanding of its action remains incomplete. We previously reported that Wdr11-deficient embryos exhibit defective ciliogenesis...
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Louden E, Dougherty M, Chorich L, Eroglu A, Layman L
F S Sci . 2023 Jul; 4(4):286-293. PMID: 37516276
Objective: To study if a pituitary or ovarian defect contributes to subfertility of the female Nsmf knockout (KO) mouse, an animal model of the hypogonadotropic hypogonadism gene NSMF. Design: Analysis...
13.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach N, Shen Y, Moldovan O, et al.
Res Sq . 2023 Apr; PMID: 37034680
In an apparently balanced translocation t(7;12)(q22;q24)dn exhibiting both Kallmann syndrome (KS) and intellectual disability (ID), we detected a cryptic heterozygous 4.7 Mb del(12)(p11.21p11.23) unrelated to the translocation breakpoint. This new...
14.
Dougherty M, Poch A, Chorich L, Hawkins Z, Xu H, Roman R, et al.
N Engl J Med . 2023 Mar; 388(11):1055-1056. PMID: 36920765
No abstract available.
15.
Brakta S, Hawkins Z, Sahajpal N, Seman N, Kira D, Chorich L, et al.
Hum Genet . 2023 Feb; 142(4):483-494. PMID: 36797380
The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely unknown. Pathogenic variants in WNT4 and HNF1B have been confirmed in a small percent of individuals. A variety of copy number...
16.
Ben-Mahmoud A, Jun K, Gupta V, Shastri P, de la Fuente A, Park Y, et al.
Front Mol Neurosci . 2022 Oct; 15:979061. PMID: 36277487
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to...
17.
Castro M, Dos Santos J, Honjo R, Yamamoto G, Bertola D, Hurst A, et al.
Am J Med Genet A . 2021 Aug; 185(12):3916-3923. PMID: 34405946
Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or...
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Louden E, Poch A, Kim H, Ben-Mahmoud A, Kim S, Layman L
Mol Cell Endocrinol . 2021 Jun; 534:111334. PMID: 34062169
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic, known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency, which results in absent puberty and infertility. Investigation of the...
20.
Mikhael S, Dugar S, Morton M, Chorich L, Tam K, Lossie A, et al.
Hum Genet . 2021 Jan; 140(4):667-680. PMID: 33469725
Purpose: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown...