Louise C Pyle
Overview
Explore the profile of Louise C Pyle including associated specialties, affiliations and a list of published articles.
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32
Citations
547
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Recent Articles
1.
Favier M, Brischoux-Boucher E, Pyle L, Mottet N, Auber-Lenoir M, Cattin J, et al.
Prenat Diagn
. 2024 Nov;
44(13):1647-1658.
PMID: 39542847
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have...
2.
Pyle L, Kim J, Bradfield J, Damrauer S, DAndrea K, Einhorn L, et al.
Eur Urol
. 2023 May;
85(4):337-345.
PMID: 37246069
Background: Testicular germ cell tumor (TGCT) is the most common cancer among young White men. TGCT is highly heritable, although there are no known high-penetrance predisposition genes. CHEK2 is associated...
3.
Nomakuchi T, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, et al.
Am J Med Genet A
. 2023 Feb;
191(5):1418-1424.
PMID: 36794641
CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism...
4.
Siebert A, Gomez-Lobo V, Johnson E, Nahata L, Orwig K, Pyle L, et al.
Front Endocrinol (Lausanne)
. 2023 Feb;
13:990359.
PMID: 36733807
Objective: Some individuals with differences of sex development (DSD) conditions undergo medically indicated prophylactic gonadectomy. Gonads of individuals with DSD can contain germ cells and precursors and patients interested in...
5.
Szigety K, Crowley T, Gaiser K, Chen E, Priestley J, Williams L, et al.
Pediatrics
. 2022 Jun;
150(1).
PMID: 35642503
Background And Objectives: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived...
6.
7.
Stevens S, Stumpel C, Diderich K, van Slegtenhorst M, Abbott M, Manning C, et al.
Clin Genet
. 2021 Oct;
101(2):183-189.
PMID: 34671974
The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent...
8.
Sewell R, Buchanan C, Davis S, Christakis D, Dempsey A, Furniss A, et al.
J Pediatr
. 2021 Aug;
239:175-181.e2.
PMID: 34461062
Objective: To evaluate the odds of a behavioral health diagnosis among youth with differences of sex development (DSD) or congenital adrenal hyperplasia (CAH) compared with matched controls in the PEDSnet...
9.
10.
Pluta J, Pyle L, Nead K, Wilf R, Li M, Mitra N, et al.
Nat Commun
. 2021 Jul;
12(1):4487.
PMID: 34301922
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and...