Suchergebnisse - "Pérez de Nanclares, G"

PubPharm (38)

1

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

enthalten in: Molecular syndromology | 2014

von Elalaoui, S. | Garin, I. | Sefiani, A. | +1

2

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

enthalten in: Clinical endocrinology | 2012

von Belar, O. | De La Hoz, C. | Pérez-Nanclares, G. | +41

3

Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.

enthalten in: Anales de pediatria (Barcelona, Spain : 2003) | 2011

von de Arriba Muñoz, A. | Labarta Aizpún, J. | Dehesa, E. | +3

4

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects

enthalten in: Journal of medical genetics | 2010

von Lecumberri, B. | Fernández-Rebollo, E. | Sentchordi, L. | +9

5

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

enthalten in: Journal of medical genetics | 2010

von Lecumberri, B. | Fernández-Rebollo, E. | Sentchordi, L. | +9

6

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

enthalten in: Diabetic medicine : a journal of the British Diabetic Association | 2009

von Garin, I. | Martinez, R. | de las Heras, J. | +60

7

Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D)

enthalten in: Diabetic medicine : a journal of the British Diabetic Association | 2009

von Martín-Frías, M. | Colino, E. | Pérez de Nanclares, G. | +3

8

Neonatal diabetes with end-stage nephropathy : pancreas transplantation decision

enthalten in: Diabetes care | 2008

von Esmatjes, E. | Jimenez, A. | Diaz, G. | +5

9

Neonatal Diabetes With End-Stage Nephropathy: Pancreas transplantation decision

enthalten in: Diabetes care | 2008

von Esmatjes, E. | Jimenez, A. | Diaz, G. | +5

10

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

enthalten in: Diabetic medicine : a journal of the British Diabetic Association | 2007

von Rica, I. | Luzuriaga, C. | Pérez de Nanclares, G. | +19