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1

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gil

Journal:

Year:

2015

Language:

english

File:

PDF, 3.57 MB

english, 2015

2

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

Fernández, Luis, Tenorio, Jair, Polo-Vaquero, Coral, Vallespín, Elena, Palomares-Bralo, María, García-Miñaúr, Sixto, Santos-Simarro, Fernando, Arias, Pedro, Carnicer, Hernán, Giannivelli, Silvina, Med

Journal:

Revista Española de Cardiología (English Edition)

Year:

2017

File:

PDF, 864 KB

2017

3

Nutritional status of children with moderate chronic renal failure

G. Orejas, F. Santos, S. Málaga, C. Rey, A. Cobo, M. Simarro

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 556 KB

english, 1995

4

Predictability of short-range forecasting: a multimodel approach

JOSE-ANTONIO GARCÍA-MOYA, ALFONS CALLADO, PAU ESCRIBÀ, CARLOS SANTOS, DANIEL SANTOS-MUÑOZ, JUAN SIMARRO

Journal:

Year:

2011

Language:

english

File:

PDF, 737 KB

english, 2011

5

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. R

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 742 KB

english, 2011

6

Arginine Decarboxylase expression, polyamines biosynthesis and reactive oxygen species during organogenic nodule formation in hop

Fortes, Ana M., Costa, Joana, Santos, Filipa, Seguí-Simarro, José M., Palme, Klaus, Altabella, Teresa, Tiburcio, Antonio F., Pais, Maria S.

Journal:

Plant Signaling & Behavior

Year:

2011

Language:

english

File:

PDF, 996 KB

english, 2011

7

Chondrodysplasia punctata associated with maternal Sjögren syndrome

Huarte, Natalia Marin, Santos-Simarro, Fernando, Abascal, Ignacio Pastor, García-Miñaur, Sixto, Omeñaca, Felix

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

8

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

Delicado, Alicia, Fernández, Luis, de Torres, María, Nevado, Julián, García-Santiago, Fe, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

9

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

ANTON-MARTIN,, ANTON-MARTIN,, Cristina Aparicio López,, Soraya Ramiro-León,, Sonia Santillán Garzón,, Fernando Santos-Simarro,, Belén Gil-Fournier,

Journal:

Clinical Medicine Insights Pediatrics

Year:

2012

Language:

english

File:

PDF, 1.39 MB

english, 2012

10

Renin, kallikrein and Prostaglandin Renal Systems in Normotensive Boys with and without a Family History of Essential Hypertension

Rey, C., Santos, F., Malaga, S., Orejas, G., Simarro, M., Crespo, M.

Journal:

European Journal of Cardiovascular Prevention & Rehabilitation

Year:

1995

Language:

english

File:

PDF, 521 KB

english, 1995

11

Síndromes de sobrecrecimiento y desarrollo de tumores embrionarios: revisión de nuestra casuística en los últimos 5 años

Sánchez-Soler, M.J., Tenorio, J., García-Miñaur, S., Santos-Simarro, F., Lapunzina, P.

Journal:

Anales de Pediatría

Year:

2016

File:

PDF, 215 KB

2016

12

Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years

Sánchez-Soler, María José, Tenorio, Jair, García-Miñaur, Sixto S., Santos-Simarro, Fernando F., Lapunzina, Pablo

Journal:

Anales de Pediatría (English Edition)

Year:

2016

Language:

english

File:

PDF, 215 KB

english, 2016

13

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D.C., Bakhti,

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 414 KB

english, 2016

14

Renin, kallikrein and prostaglandin renal systems in normotensive boys with and without a family history of essential hypertension

Rey, Corsino, Santos, Fernando, M??laga, Serafin, Orejas, Gonzalo, Simarro, Margarita, Crespo, Manuel

Journal:

Journal of Cardiovascular Risk

Year:

1995

File:

PDF, 472 KB

1995

15

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

Barraza-García, Jimena, Iván Rivera-Pedroza, Carlos, Salamanca, Luis, Belinchón, Alberta, López-González, Vanesa, Sentchordi-Montané, Lucía, del Pozo, Ángela, Santos-Simarro, Fernando, Campos-Barros,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.27 MB

english, 2016

16

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Santos-Simarro, F., Vallespin, E., del Pozo, A., Ibañez, K., Silla, J.C., Fernandez, L., Nevado, J., González-Pecellín, H., Montaño, V.E.F., Martin, R., Alba Valdivia, L.I., García-Miñaúr, S., Lapunzi

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 951 KB

english, 2017

17

Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two

Bravo García-Morato, M., García-Miñaúr, S., Molina Garicano, J., Santos Simarro, F., Del Pino Molina, L., López-Granados, E., Ferreira Cerdán, A., Rodríguez Pena, R.

Journal:

Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 504 KB

english, 2017

18

A new variant in PHKA2 is associated with glycogen storage disease type IXa

Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 573 KB

english, 2017

19

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review

Gordo, G., Tenorio, J., Arias, P., Santos-Simarro, F., García-Miñaur, S., Moreno, J.C., Nevado, J., Vallespin, E., Rodriguez-Laguna, L., de Mena, R., Dapia, I., Palomares, M., del Pozo, Á., Ibañez, K.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.23 MB

english, 2017

20

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain

Muñoz-Cabello, Patricia, García-Miñaúr, Sixto, Espinel-Vallejo, Manuel Eliecer, Fernández-Franco, Lorenzo, Stephens, Alexandra, Santos-Simarro, Fernando, Lapunzina-Badía, Pablo, McAllister, Marion

Journal:

Journal of Genetic Counseling

Year:

2017

Language:

english

File:

PDF, 2.08 MB

english, 2017

21

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Rodriguez-Laguna, Lara, Ibañez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespín, Elena, Fernández-Montaño, Victoria E, Martín-Arenas, Rubén, del Pozo, Án

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 461 KB

english, 2018

22

Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvular

Fernández, Luis, Tenorio, Jair, Polo-Vaquero, Coral, Vallespín, Elena, Palomares-Bralo, María, García-Miñaúr, Sixto, Santos-Simarro, Fernando, Arias, Pedro, Carnicer, Hernán, Giannivelli, Silvina, Med

Journal:

Revista Española de Cardiología

Year:

2018

File:

PDF, 1.29 MB

2018

23

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.76 MB

english, 2018

24

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

Sánchez-Montenegro, Carlos, Vilanova-Sánchez, Alejandra, Barrena-Delfa, Saturnino, Tenorio, Jair, Santos-Simarro, Fernando, García-Miñaur, Sixto, Lapunzina, Pablo, Martínez-Martínez, Leopoldo

Journal:

Case Reports in Genetics

Year:

2017

Language:

english

File:

PDF, 3.40 MB

english, 2017

25

Mutations in PERP Cause Dominant and Recessive Keratoderma

Duchatelet, Sabine, Boyden, Lynn M., Ishida-Yamamoto, Akemi, Zhou, Jing, Guibbal, Laure, Hu, Ronghua, Lim, Young H., Bole-Feysot, Christine, Nitschké, Patrick, Santos-Simarro, Fernando, de Lucas, Raul

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 4.03 MB

english, 2018

26

Brote de Klebsiella pneumoniae productora de betalactamasas de espectro extendido en una unidad de cuidados intensivos neonatales: factores de riesgo y medidas de prevención clave para su erradicación en tiempo récord

Fernández-Prada, María, Martínez-Ortega, Carmen, Santos-Simarro, Guillermo, Morán-Álvarez, Patricia, Fernández-Verdugo, Ana, Costa-Romero, Marta

Journal:

Anales de Pediatría

Year:

2018

File:

PDF, 580 KB

2018

27

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos-Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 743 KB

2019

28

Outbreak of extended-spectrum beta-lactamase-producing Klebsiella pneumoniae in a neonatal intensive care unit: Risk factors and key preventive measures for eradication in record time

Fernández-Prada, María, Martínez-Ortega, Carmen, Santos-Simarro, Guillermo, Morán-Álvarez, Patricia, Fernández-Verdugo, Ana, Costa-Romero, Marta

Journal:

Anales de Pediatría (English Edition)

Year:

2018

Language:

english

File:

PDF, 568 KB

english, 2018

29

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

Bauer, Christiane K., Schneeberger, Pauline E., Kortüm, Fanny, Altmüller, Janine, Santos-Simarro, Fernando, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W.

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.46 MB

english, 2019

30

Metabolites able to predict uterine diseases in crossbred dairy cows during the transition period

Daibert, Erick, Alvarenga, Paula Batista de, Rezende, Amanda Lima, Fagundes, Nádia Simarro, Krüger, Barbara Cristina, Santos, Ricarda Maria dos, Mundim, Antonio Vicente, Saut, João Paulo Elsen

Journal:

Semina Ciências Agrárias

Year:

2018

File:

PDF, 925 KB

2018

31

MAGEL2‐Related Disorders: A study and case series

Patak, J., Gilfert, J., Byler, M., Neerukonda, V., Thiffault, I., Cross, L.A., Amudhavalli, S.M., Pacio‐Miguez, M., Palomares‐Bralo, M., Garcia‐Minaur, S., Santos‐Simarro, F., Powis, Z., Alcaraz, W.,

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

32

Further delineation of putative ACTB loss‐of‐function variants: a 4‐patient series

Baumann, Matthias, Beaver, Erin M, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.

Journal:

Year:

2020

File:

PDF, 249 KB

2020

33

Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON

Quintana Castanedo, LucÃa, SÃ¡nchez Orta, Alba, Maseda Pedrero, RocÃo, Santos Simarro, Fernando, Palomares Bralo, MarÃa, Feito RodrÃguez, Marta, Lucas Laguna, RaÃºl

Journal:

Pediatric Dermatology

Year:

2020

File:

PDF, 493 KB

2020