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Garin, Intza
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1

Germline heterozygous exons 8–11 pathogenic BARD1 gene dele..:

Carrera, Sergio ; Rodríguez-Martínez, Ana Belén ; Garin, Intza...
Hereditary Cancer in Clinical Practice.  21 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

Glucose and galactose malabsorption: A new case in Spain:

Lodoso-Torrecilla, Blanca ; Perez de Nanclares, Guiomar ; Garin, Intza..
Anales de Pediatría (English Edition).  92 (2020)  2 - p. 104-105 , 2020
Link: https://doi.org/10.1016/..
 
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3

Malabsorción de glucosa y galactosa. Nuevo caso en España:

Lodoso-Torrecilla, Blanca ; Perez de Nanclares, Guiomar ; Garin, Intza..
Anales de Pediatría.  92 (2020)  2 - p. 104-105 , 2020
Link: https://doi.org/10.1016/..
 
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4

Progressive osseous heteroplasia caused by a mosaic GNAS mu..:

Pereda, Arrate ; Martos‐Tello, Jose Maria ; Garin, Intza..
Clinical Endocrinology.  88 (2018)  6 - p. 993-995 , 2018
Link: https://doi.org/10.1111/..
 
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5

What to consider when pseudohypoparathyroidism is ruled out..:

Spanish Network for Imprinting Disorders ; Pereda, Arrate ; Garin, Intza.
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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6

Autosomal Dominant Tubulointerstitial Kidney Disease: Clini..:

Ayasreh, Nadia ; Bullich, Gemma ; Miquel, Rosa...
American Journal of Kidney Diseases.  72 (2018)  3 - p. 411-418 , 2018
Link: https://doi.org/10.1053/..
 
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7

The p.R56* mutation in PTHLH causes variable brachydactyly ..:

Pereda, Arrate ; Garzon‐Lorenzo, Lucia ; Garin, Intza...
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 816-819 , 2017
Link: https://doi.org/10.1002/..
 
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8

The Prevalence of GNAS Deficiency-Related Diseases in a Lar..:

Elli, Francesca Marta ; Linglart, Agnès ; Garin, Intza...
The Journal of Clinical Endocrinology & Metabolism.  101 (2016)  10 - p. 3657-3668 , 2016
Link: https://doi.org/10.1210/..
 
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9

Genome-wide DNA methylation analysis of pseudohypoparathyro..:

Rochtus, Anne ; Martin-Trujillo, Alejandro ; Izzi, Benedetta...
Clinical Epigenetics.  8 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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10

From pseudohypoparathyroidism to inactivating PTH/PTHrP sig..:

Thiele, Susanne ; Mantovani, Giovanna ; Barlier, Anne...
European Journal of Endocrinology.  175 (2016)  6 - p. P1-P17 , 2016
Link: https://doi.org/10.1530/..
 
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11

Novel Microdeletions Affecting the GNAS Locus in Pseudohypo..:

Garin, Intza ; Elli, Francesca M. ; Linglart, Agnes...
The Journal of Clinical Endocrinology & Metabolism.  100 (2015)  4 - p. E681-E687 , 2015
Link: https://doi.org/10.1210/..
 
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12

Multilocus methylation defects in imprinting disorders:

Mackay, Deborah J.G. ; Eggermann, Thomas ; Buiting, Karin...
Biomolecular Concepts.  6 (2015)  1 - p. 47-57 , 2015
Link: https://doi.org/10.1515/..
 
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13

Report of two novel mutations in PTHLH associated with brac..:

Thomas‐Teinturier, Cecile ; Pereda, Arrate ; Garin, Intza...
American Journal of Medical Genetics Part A.  170 (2015)  3 - p. 734-742 , 2015
Link: https://doi.org/10.1002/..
 
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14

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

Pereda, Arrate ; Garin, Intza ; Garcia-Barcina, Maria...
Orphanet Journal of Rare Diseases.  8 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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15

Disomy as the Genetic Underlying Mechanisms of Loss of Hete..:

Beristain, Elena ; Vicente, Maria-Angeles ; Guerra, Isabel...
The Journal of Clinical Endocrinology & Metabolism.  98 (2013)  5 - p. E1012-E1016 , 2013
Link: https://doi.org/10.1210/..
 
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