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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilso… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: sanchis calvo a. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL. Palencia-Campos A, et al. Among authors: sanchis calvo a. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. Hum Mutat. 2020. PMID: 31549748
[Isolated macrodactyly in a newborn].
Navarro Ruiz A, Sanchis Calvo A, Escobar Araico M, Llorens Salvador R. Navarro Ruiz A, et al. Among authors: sanchis calvo a. An Pediatr (Barc). 2009 Nov;71(5):459-60. doi: 10.1016/j.anpedi.2009.03.015. Epub 2009 May 22. An Pediatr (Barc). 2009. PMID: 19464970 Free article. Spanish. No abstract available.
[Evolution of the frequency of congenital defects in newborn infants and fetuses from terminations of pregnancy after prenatal diagnosis in the period 1982-2009].
Sanchis Calvo A, Roselló-Sastre E, Marcos Puig B, Balanzá Chancosa R, Pérez Ebri ML, Alcover Barrachina I, Camarasa Lillo N, Bermejo-Sánchez E, Escandón Alvarez J. Sanchis Calvo A, et al. Med Clin (Barc). 2013 Aug 17;141(4):152-8. doi: 10.1016/j.medcli.2012.05.021. Epub 2012 Jul 28. Med Clin (Barc). 2013. PMID: 22841468 Spanish.
[Birth characteristics due to in vitro fertilization (IVF) techniques].
Sanchis Calvo A, Marcos Puig B, Juan García L, Morales Suárez-Varela MM, Abeledo Gómez A, Balanzá Machancosa R, Pineda Caplliure A, Tamarit Bordes G, Gimeno Clemente N, Cerveró Martí L. Sanchis Calvo A, et al. An Pediatr (Barc). 2009 Apr;70(4):333-9. doi: 10.1016/j.anpedi.2009.02.002. Epub 2009 Mar 17. An Pediatr (Barc). 2009. PMID: 19282256 Free article. Spanish.
[Situs ambiguous in a school child with respiratory disease].
Tortajada Girbés M, García Muñoz E, Gracia Antequera M, Sanz Sanz I, Sanchís Calvo A, Tallón Guerola M. Tortajada Girbés M, et al. Among authors: sanchis calvo a. An Pediatr (Barc). 2009 Sep;71(3):265-6. doi: 10.1016/j.anpedi.2009.04.012. Epub 2009 May 30. An Pediatr (Barc). 2009. PMID: 19482529 Free article. Spanish. No abstract available.
[Ciliopathies: a journey through the cilium].
Faus Pérez A, Sanchis Calvo A, Codoñer Franch P, Camarasa Lillo N, Alcover Barrachina I. Faus Pérez A, et al. Among authors: sanchis calvo a. An Pediatr (Barc). 2015 Feb;82(2):104-5. doi: 10.1016/j.anpedi.2014.07.025. Epub 2014 Sep 10. An Pediatr (Barc). 2015. PMID: 25217387 Free article. Spanish. No abstract available.
19 results