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Page 1
15q24 Duplication: A Case Report of Neurodevelopmental Delay.
Cámara-Domínguez A, Stuart-Aguiar AM, Fuentes-Canto NA, Cervera-Rosado A, Azotla-Vilchis CN, Márquez-Quiroz LDC, Vargas-Méndez R, Contreras-Capetillo SN. Cámara-Domínguez A, et al. Among authors: contreras capetillo sn. Clin Pediatr (Phila). 2024 Nov 21:99228241296235. doi: 10.1177/00099228241296235. Online ahead of print. Clin Pediatr (Phila). 2024. PMID: 39573983
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: contreras capetillo sn. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O… See abstract for full author list ➔ Lesmann H, et al. Among authors: contreras capetillo sn. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Birth Defects Associated With Congenital Zika Virus Infection in Mexico.
Contreras-Capetillo SN, Valadéz-González N, Manrique-Saide P, Carcaño-Castillo RE, Pacheco-Tugores F, Barrera-Pérez HAM, Pinto-Escalante D, Lliteras-Cardín M, Hoil-Parra JA, Cáceres-Solís JL, Pavía-Ruz N. Contreras-Capetillo SN, et al. Clin Pediatr (Phila). 2018 Jul;57(8):927-936. doi: 10.1177/0009922817738341. Epub 2017 Nov 19. Clin Pediatr (Phila). 2018. PMID: 29152996 Review.
Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
Ibarra-González I, Campos-Garcia FJ, Herrera-Pérez LDA, Martínez-Cruz P, Moreno-Graciano CM, Contreras-Capetillo SN, León-Burgos V, Maldonado-Solis FA, Alcántara-Ortigoza MA, González Del Angel A, Vela-Amieva M. Ibarra-González I, et al. Among authors: contreras capetillo sn. J Med Screen. 2018 Sep;25(3):119-125. doi: 10.1177/0969141317722808. Epub 2017 Oct 9. J Med Screen. 2018. PMID: 28992757
Focal dermal hypoplasia without focal dermal hypoplasia.
Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC. Contreras-Capetillo SN, et al. Am J Med Genet A. 2014 Mar;164A(3):778-81. doi: 10.1002/ajmg.a.36341. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357603