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	1.	The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes. [electronic resource] by Fernández, Raquel M Antiñolo, Guillermo Eng, Charis Borrego, Salud Producer: 20040412 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients. [electronic resource] by Sánchez-Mejías, Avencia Fernández, Raquel M Antiñolo, Guillermo Borrego, Salud Publication details: Experimental and therapeutic medicine Nov 2010 In: Experimental and therapeutic medicine vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Hirschsprung's disease as a model of complex genetic etiology. [electronic resource] by Borrego, Salud Ruiz-Ferrer, Macarena Fernández, Raquel M Antiñolo, Guillermo Producer: 20140318 In: Histology and histopathology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. [electronic resource] by Fernández, Raquel M Peciña, Ana Antiñolo, Guillermo Navarro, Elena Borrego, Salud Producer: 20061218 In: Thyroid : official journal of the American Thyroid Association vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient. [electronic resource] by Fernández, Raquel M Peciña, Ana Muñoz-Cabello, Beatriz Antiñolo, Guillermo Borrego, Salud Producer: 20160920 In: Clinical case reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	G534E Variant in HABP2 and Nonmedullary Thyroid Cancer. [electronic resource] by Ruiz-Ferrer, Macarena Fernández, Raquel M Navarro, Elena Antiñolo, Guillermo Borrego, Salud Producer: 20180220 In: Thyroid : official journal of the American Thyroid Association vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	ESR2 Gene and Medullary Thyroid Carcinoma. [electronic resource] by Ruiz-Ferrer, Macarena Fernández, Raquel M Navarro, Elena Antiñolo, Guillermo Borrego, Salud Producer: 20181211 In: Thyroid : official journal of the American Thyroid Association vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. [electronic resource] by Sánchez-Mejías, Avencia Núñez-Torres, Rocio Fernández, Raquel M Antiñolo, Guillermo Borrego, Salud Producer: 20100607 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease. [electronic resource] by Ruiz-Ferrer, Macarena Fernandez, Raquel M Antiñolo, Guillermo Lopez-Alonso, Manuel Borrego, Salud Producer: 20081020 In: Journal of pediatric surgery vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. [electronic resource] by Núñez-Torres, Rocío Fernández, Raquel M López-Alonso, Manuel Antiñolo, Guillermo Borrego, Salud Producer: 20100125 In: BMC medical genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. [electronic resource] by Fernandez, Raquel M Ruiz-Ferrer, Macarena Lopez-Alonso, Manuel Antiñolo, Guillermo Borrego, Salud Producer: 20090210 In: Journal of pediatric surgery vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. [electronic resource] by Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Producer: 20101101 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. [electronic resource] by Ruiz-Ferrer, Macarena Fernández, Raquel M Antiñolo, Guillermo López-Alonso, Manuel Eng, Charis Borrego, Salud Producer: 20070201 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer. [electronic resource] by Fernández, Raquel M Sánchez-Mejías, Avencia Navarro, Elena López-Alonso, Manuel Antiñolo, Guillermo Borrego, Salud Producer: 20091123 In: Thyroid : official journal of the American Thyroid Association vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	What is new about the genetic background of Hirschsprung disease? [electronic resource] by Luzón-Toro, Berta Villalba-Benito, Leticia Torroglosa, Ana Fernández, Raquel M Antiñolo, Guillermo Borrego, Salud Producer: 20210204 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. [electronic resource] by Borrego, Salud Fernández, Raquel M Dziema, Heather Japón, Miguel A Marcos, Irene Eng, Charis Antiñolo, Guillermo Producer: 20030522 In: Thyroid : official journal of the American Thyroid Association vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β-Thalassemia. [electronic resource] by Fernández, Raquel M Peciña, Ana Lozano-Arana, Maria Dolores García-Lozano, Juan Carlos Borrego, Salud Antiñolo, Guillermo Producer: 20131231 In: BioMed research international vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. [electronic resource] by Fernández, Raquel M Núñez-Torres, Rocío García-Díaz, Lutgardo de Agustín, Juan Carlos Antiñolo, Guillermo Borrego, Salud Producer: 20120730 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease. [electronic resource] by Ruiz-Ferrer, Macarena Torroglosa, Ana Luzón-Toro, Berta Fernández, Raquel M Antiñolo, Guillermo Mulligan, Lois M Borrego, Salud Producer: 20110830 In: Journal of molecular medicine (Berlin, Germany) vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. [electronic resource] by Fernández, Raquel M Sánchez, Javier García-Díaz, Lutgardo Peláez-Nora, Yolanda González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 36 results.