Pérez-Nanclares G - Search Results

1

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

Aparicio López C, Anton-Martin P, Gil-Fournier B, Ramiro-León S, Pérez-Nanclares G, Pérez de Nanclares G, Martínez Menéndez B, Castaño L. Aparicio López C, et al. Among authors: perez nanclares g. Eur J Pediatr. 2012 Jan;171(1):147-50. doi: 10.1007/s00431-011-1504-8. Epub 2011 Jun 4. Eur J Pediatr. 2012. PMID: 21643651

2

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, Carrascosa A. Yeste D, et al. Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15. Eur J Pediatr. 2009. PMID: 18414894

3

Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.

Belar O, De La Hoz C, Pérez-Nanclares G, Castaño L, Gaztambide S; Spanish MEN1 Group. Belar O, et al. Among authors: perez nanclares g. Clin Endocrinol (Oxf). 2012 May;76(5):719-24. doi: 10.1111/j.1365-2265.2011.04269.x. Clin Endocrinol (Oxf). 2012. PMID: 22026581

4

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group. Garin I, et al. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1. Clin Endocrinol (Oxf). 2008. PMID: 18248649

5

New mutation type in pseudohypoparathyroidism type Ia.

Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, de Nanclares GP. Fernandez-Rebollo E, et al. Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12. doi: 10.1111/j.1365-2265.2008.03255.x. Epub 2008 Apr 3. Clin Endocrinol (Oxf). 2008. PMID: 18394017

6

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.

Fernández-Rebollo E, Pérez O, Martinez-Bouzas C, Cotarelo-Pérez MC, Garin I, Ruibal JL, Pérez-Nanclares G, Castaño L, de Nanclares GP. Fernández-Rebollo E, et al. Eur J Endocrinol. 2009 Apr;160(4):711-7. doi: 10.1530/EJE-08-0865. Eur J Endocrinol. 2009. PMID: 19332529

7

Thyroid hormone resistance from newborns to adults: a Spanish experience.

Vela A, Pérez-Nanclares G, Ríos I, Rica I, Portillo N, Castaño L; Spanish Group for the Study of RTH. Vela A, et al. Among authors: perez nanclares g. J Endocrinol Invest. 2019 Aug;42(8):941-949. doi: 10.1007/s40618-019-1007-4. Epub 2019 Feb 1. J Endocrinol Invest. 2019. PMID: 30707410

8

Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.

Perez-Nanclares G, Velayos T, Vela A, Muñoz-Torres M, Castaño L. Perez-Nanclares G, et al. PLoS One. 2015 Feb 24;10(2):e0117691. doi: 10.1371/journal.pone.0117691. eCollection 2015. PLoS One. 2015. PMID: 25710380 Free PMC article.

9

Mutations in MAFA and IAPP are not a common cause of monogenic diabetes.

Garin I, Martinez R, de las Heras J, Perez-Nanclares G, Castano L, Perez de Nanclares G; Spanish GEDIMO Group. Garin I, et al. Diabet Med. 2009 Jul;26(7):746-8. doi: 10.1111/j.1464-5491.2009.02758.x. Diabet Med. 2009. PMID: 19573128 No abstract available.

10

MICA response to gliadin in intestinal mucosa from celiac patients.

Martín-Pagola A, Pérez-Nanclares G, Ortiz L, Vitoria JC, Hualde I, Zaballa R, Preciado E, Castaño L, Bilbao JR. Martín-Pagola A, et al. Immunogenetics. 2004 Nov;56(8):549-54. doi: 10.1007/s00251-004-0724-8. Epub 2004 Oct 14. Immunogenetics. 2004. PMID: 15490153

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