Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 57


Integrating population genetics to define conservation units from the core to the edge of Rhinolophus ferrumequinum western range.

Tournayre O, Pons JB, Leuchtmann M, Leblois R, Piry S, Filippi-Codaccioni O, Loiseau A, Duhayer J, Garin I, Mathews F, Puechmaille S, Charbonnel N, Pontier D.

Ecol Evol. 2019 Oct 12;9(21):12272-12290. doi: 10.1002/ece3.5714. eCollection 2019 Nov.


Gaining ecological insight on dietary allocation among horseshoe bats through molecular primer combination.

Aldasoro M, Garin I, Vallejo N, Baroja U, Arrizabalaga-Escudero A, Goiti U, Aihartza J.

PLoS One. 2019 Jul 24;14(7):e0220081. doi: 10.1371/journal.pone.0220081. eCollection 2019.


Pest consumption in a vineyard system by the lesser horseshoe bat (Rhinolophus hipposideros).

Baroja U, Garin I, Aihartza J, Arrizabalaga-Escudero A, Vallejo N, Aldasoro M, Goiti U.

PLoS One. 2019 Jul 18;14(7):e0219265. doi: 10.1371/journal.pone.0219265. eCollection 2019.


Bats from different foraging guilds prey upon the pine processionary moth.

Garin I, Aihartza J, Goiti U, Arrizabalaga-Escudero A, Nogueras J, Ibáñez C.

PeerJ. 2019 Jul 5;7:e7169. doi: 10.7717/peerj.7169. eCollection 2019.


Trait-based functional dietary analysis provides a better insight into the foraging ecology of bats.

Arrizabalaga-Escudero A, Merckx T, García-Baquero G, Wahlberg N, Aizpurua O, Garin I, Goiti U, Aihartza J.

J Anim Ecol. 2019 Oct;88(10):1587-1600. doi: 10.1111/1365-2656.13055. Epub 2019 Jul 28.


[Glucose and galactose malabsorption: A new case in Spain].

Lodoso-Torrecilla B, Perez de Nanclares G, Garin I, Calvo-Saez A, Martinez-Fernandez de Pinedo I.

An Pediatr (Barc). 2019 Jan 18. pii: S1695-4033(18)30560-5. doi: 10.1016/j.anpedi.2018.12.006. [Epub ahead of print] Spanish. No abstract available.


Contrasting thermal strategies of montane Neotropical bats at high elevations.

Garin I, Chaverri G, Jimenez L, Castillo-Salazar C, Aihartza J.

J Therm Biol. 2018 Dec;78:352-355. doi: 10.1016/j.jtherbio.2018.10.017. Epub 2018 Oct 26.


New Adenovirus Groups in Western Palaearctic Bats.

Iglesias-Caballero M, Juste J, Vázquez-Morón S, Falcon A, Aznar-Lopez C, Ibáñez C, Pozo F, Ruiz G, Berciano JM, Garin I, Aihartza J, Echevarría JE, Casas I.

Viruses. 2018 Aug 20;10(8). pii: E443. doi: 10.3390/v10080443.


Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R.

Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18.


The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.

Monteagudo-Sánchez A, Garin I, de Nanclares GP, Monk D.

Methods Mol Biol. 2018;1766:109-121. doi: 10.1007/978-1-4939-7768-0_6.


What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

Pereda A, Garin I; Spanish Network for Imprinting Disorders, Perez de Nanclares G.

BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z.


Progressive osseous heteroplasia caused by a mosaic GNAS mutation.

Pereda A, Martos-Tello JM, Garin I, Errea-Dorronsoro J, Perez de Nanclares G.

Clin Endocrinol (Oxf). 2018 Jun;88(6):993-995. doi: 10.1111/cen.13584. Epub 2018 Mar 25. No abstract available.


Assessing niche partitioning of co-occurring sibling bat species by DNA metabarcoding.

Arrizabalaga-Escudero A, Clare EL, Salsamendi E, Alberdi A, Garin I, Aihartza J, Goiti U.

Mol Ecol. 2018 Mar;27(5):1273-1283. doi: 10.1111/mec.14508. Epub 2018 Mar 12.


The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.

Linglart A, Mantovani G, Garin I, Usardi A, Elli FM, de Nanclares GP.

Pediatr Endocrinol Rev. 2017 Nov;15(Suppl 1):92-97. doi: 10.17458/per.vol15.2017.lmg.pseudohypoparathyroidism.


The p.R56* mutation in PTHLH causes variable brachydactyly type E.

Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G.

Am J Med Genet A. 2017 Mar;173(3):816-819. doi: 10.1002/ajmg.a.38067. No abstract available.


Identification of Novel Betaherpesviruses in Iberian Bats Reveals Parallel Evolution.

Pozo F, Juste J, Vázquez-Morón S, Aznar-López C, Ibáñez C, Garin I, Aihartza J, Casas I, Tenorio A, Echevarría JE.

PLoS One. 2016 Dec 30;11(12):e0169153. doi: 10.1371/journal.pone.0169153. eCollection 2016.


Fishing Technique of Long-Fingered Bats Was Developed from a Primary Reaction to Disappearing Target Stimuli.

Aizpurua O, Alberdi A, Aihartza J, Garin I.

PLoS One. 2016 Dec 14;11(12):e0167164. doi: 10.1371/journal.pone.0167164. eCollection 2016.


Unveiling the Hidden Bat Diversity of a Neotropical Montane Forest.

Chaverri G, Garin I, Alberdi A, Jimenez L, Castillo-Salazar C, Aihartza J.

PLoS One. 2016 Oct 5;11(10):e0162712. doi: 10.1371/journal.pone.0162712. eCollection 2016.


The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G.

J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. Epub 2016 Jul 18.


From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A.

Eur J Endocrinol. 2016 Dec;175(6):P1-P17. Epub 2016 Jul 11. Review.


Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.

Clin Epigenetics. 2016 Jan 26;8:10. doi: 10.1186/s13148-016-0175-8. eCollection 2016.


Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP.

Am J Med Genet A. 2016 Mar;170(3):734-42. doi: 10.1002/ajmg.a.37490. Epub 2015 Dec 6. Review.


Insight on how fishing bats discern prey and adjust their mechanic and sensorial features during the attack sequence.

Aizpurua O, Alberdi A, Aihartza J, Garin I.

Sci Rep. 2015 Jul 21;5:12392. doi: 10.1038/srep12392.


European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, de Nanclares GP, Silve C, Thiele S, Werner R.

Eur J Hum Genet. 2015 Apr;23(4):560. doi: 10.1038/ejhg.2015.40. No abstract available.


Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.

Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G.

J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16.


Multilocus methylation defects in imprinting disorders.

Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP.

Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Review.


Unveiling the factors shaping the distribution of widely distributed alpine vertebrates, using multi-scale ecological niche modelling of the bat Plecotus macrobullaris.

Alberdi A, Aizpurua O, Aihartza J, Garin I.

Front Zool. 2014 Oct 29;11(1):77. doi: 10.1186/s12983-014-0077-6. eCollection 2014.


Fine-tuned echolocation and capture-flight of Myotis capaccinii when facing different-sized insect and fish prey.

Aizpurua O, Aihartza J, Alberdi A, Baagøe HJ, Garin I.

J Exp Biol. 2014 Sep 15;217(Pt 18):3318-25. doi: 10.1242/jeb.104992. Epub 2014 Jul 10.


European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium.

Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Erratum in: Eur J Hum Genet. 2015 Apr;23(4):560.


Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.

Pereda A, Azriel S, Bonet M, Garin I, Gener B, Lecumberri B, de Nanclares GP.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1089-94. doi: 10.1515/jpem-2014-0020.


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

Elalaoui SC, Garin I, Sefiani A, Perez de Nanclares G.

Mol Syndromol. 2014 Jan;5(1):41-6. doi: 10.1159/000356689. Epub 2013 Nov 30.


Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.

Domínguez-García A, Martínez R, Urrutia I, Garin I, Castaño L.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):561-4. doi: 10.1515/jpem-2013-0284.


Novel papillomaviruses in free-ranging Iberian bats: no virus-host co-evolution, no strict host specificity, and hints for recombination.

García-Pérez R, Ibáñez C, Godínez JM, Aréchiga N, Garin I, Pérez-Suárez G, de Paz O, Juste J, Echevarría JE, Bravo IG.

Genome Biol Evol. 2014 Jan;6(1):94-104. doi: 10.1093/gbe/evt211.


Fishing long-fingered bats (Myotis capaccinii) prey regularly upon exotic fish.

Aizpurua O, Garin I, Alberdi A, Salsamendi E, Baagøe H, Aihartza J.

PLoS One. 2013 Nov 27;8(11):e80163. doi: 10.1371/journal.pone.0080163. eCollection 2013.


Brachydactyly E: isolated or as a feature of a syndrome.

Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G.

Orphanet J Rare Dis. 2013 Sep 12;8:141. doi: 10.1186/1750-1172-8-141. Review.


Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas.

Beristain E, Vicente MA, Guerra I, Gutiérrez-Corres FB, Garin I, Perez de Nanclares G.

J Clin Endocrinol Metab. 2013 May;98(5):E1012-6. doi: 10.1210/jc.2012-4083. Epub 2013 Mar 14.


Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D.

Hum Mutat. 2013 Apr;34(4):595-602. doi: 10.1002/humu.22276. Epub 2013 Feb 19.


What mechanism of niche segregation allows the coexistence of sympatric sibling rhinolophid bats?

Salsamendi E, Garin I, Arostegui I, Goiti U, Aihartza J.

Front Zool. 2012 Nov 13;9(1):30. doi: 10.1186/1742-9994-9-30.


Clinical utility gene card for: pseudohypoparathyroidism.

Mantovani G, Linglart A, Garin I, Silve C, Elli FM, de Nanclares GP.

Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.211. Epub 2012 Sep 12. No abstract available.


The foraging ecology of the mountain long-eared bat Plecotus macrobullaris revealed with DNA mini-barcodes.

Alberdi A, Garin I, Aizpurua O, Aihartza J.

PLoS One. 2012;7(4):e35692. doi: 10.1371/journal.pone.0035692. Epub 2012 Apr 24.


Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo Seco C, Fernandez-Rebollo E, Martínez F, Lapunzina P, de Nanclares GP; Spanish PHP Group.

J Clin Endocrinol Metab. 2012 Jun;97(6):E1060-7. doi: 10.1210/jc.2012-1081. Epub 2012 Apr 4. Erratum in: J Clin Endocrinol Metab. 2017 Apr 1;102(4):1406.


Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.

Garin I, Perez de Nanclares G, Gastaldo E, Harries LW, Rubio-Cabezas O, Castaño L.

PLoS One. 2012;7(1):e29205. doi: 10.1371/journal.pone.0029205. Epub 2012 Jan 3.


Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.

Mayo S, Garin I, Monfort S, Roselló M, Orellana C, Oltra S, Zazo C, de Naclares GP, Martínez F.

J Hum Genet. 2012 Feb;57(2):153-6. doi: 10.1038/jhg.2011.145. Epub 2012 Jan 5. No abstract available.


Detection of alpha and betacoronaviruses in multiple Iberian bat species.

Falcón A, Vázquez-Morón S, Casas I, Aznar C, Ruiz G, Pozo F, Perez-Breña P, Juste J, Ibáñez C, Garin I, Aihartza J, Echevarría JE.

Arch Virol. 2011 Oct;156(10):1883-90. doi: 10.1007/s00705-011-1057-1. Epub 2011 Jul 16.


Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.

Zazo C, Thiele S, Martín C, Fernandez-Rebollo E, Martinez-Indart L, Werner R, Garin I; Spanish PHP Group, Hiort O, Perez de Nanclares G.

J Bone Miner Res. 2011 Aug;26(8):1864-70. doi: 10.1002/jbmr.369.


Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.

de las Heras J, Garin I, de Nanclares GP, Aguayo A, Rica I, Castaño L, Vela A.

J Pediatr Endocrinol Metab. 2010 Aug;23(8):827-30.


Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations.

Belar O, Del Pozo JS, Moreno-García M, Cruz-Rojo J, Garin I, de Nanclares GP.

Am J Med Genet A. 2010 Nov;152A(11):2901-5. doi: 10.1002/ajmg.a.33679. No abstract available.


New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi F, Orduña R; Spanish PHP Group, Castaño L, de Nanclares GP.

Eur J Endocrinol. 2010 Dec;163(6):953-62. doi: 10.1530/EJE-10-0435. Epub 2010 Sep 13.


Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.

Zhou Q, Garin I, Castaño L, Argente J, Muñoz-Calvo MT, Perez de Nanclares G, Shyng SL.

J Clin Endocrinol Metab. 2010 Dec;95(12):E473-8. doi: 10.1210/jc.2010-1231. Epub 2010 Sep 1.


Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28.

Supplemental Content

Support Center