Luis Paisàn: search on Z-Library

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1

A polymorphism inPTPN2gene is associated with an earlier onset of type 1 diabetes

Laura Espino-Paisan, Hermenegildo de la Calle, Miguel Fernández-Arquero, Maria Ángeles Figueredo, Emilio G. de la Concha, Elena Urcelay, Jose Luis Santiago

Journal:

Year:

2011

Language:

english

File:

PDF, 105 KB

english, 2011

2

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 439 KB

english, 2017

3

Pure partial trisomy 7q: Two new patients and review

Laura Rodríguez, Fermina López, Luis Paisán, Maria del Mar Portugués de la Red, Angeles Maria Ruiz, Manuel Blanco, Jesús Antelo Cortizas, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 213 KB

english, 2002

4

Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry

Dr. María-Luisa Martínez-Frías, Eva Bermejo, Luis Paisàn, Martín Martín, Javier Egüés, José-Antonio López, Salvador Martínez, Carlos Orbea, Fermín Cucalón, Josep-María Gairi, Miguel Urioste, María-Ang

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 920 KB

english, 1994

5

Expression patterns common and unique to ulcerative colitis and celiac disease

Medrano, Luz María, Pascual, Virginia, Bodas, Andrés, López-Palacios, Natalia, Salazar, Isabel, Espino-Paisán, Laura, González-Pérez, Beatriz, Urcelay, Elena, Mendoza, Juan Luis, Núñez, Concepción

Journal:

Annals of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.55 MB

english, 2018

6

An insight into the genetics of type 1 Diabetes

Laura Espino-Paisán, Elena Urcelay, Jose Luis Santiago

Journal:

Year:

2009

Language:

english

File:

PDF, 473 KB

english, 2009

7

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

Darvish, Hossein, Bravo, Paloma, Tafakhori, Abbas, Azcona, Luis J., Ranji-Burachaloo, Sakineh, Johari, Amir Hossein, Paisán-Ruiz, Coro

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 287 KB

english, 2018

8

Genetic screening in two Iranian families with early onset Alzheimer’s disease identified a novel PSEN1 mutation

Wang, Jen-Chyong, Alinaghia, Somayeh, Tafakhori, Abbas, Sikora, Elizabeth, Azcona, Luis J., Karkheiran, Siamak, Goate, Alison, Paisán-Ruiz, Coro, Darvish, Hossein

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 769 KB

english, 2017

9

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)

Dr. María-Luisa Martínez-Frías, Miguel Urioste, Eva Bermejo, Elvira Rodríguez-Pinilla, Valentín Félix, Luis Paisán, Salvador Martínez, Javier Egüés, Francisco Gómez, Paulino Aparicio, Fermín Cucalón,

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 689 KB

english, 1995

10

A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization

Nagore García de Andoin, Juncal Echeverría, Ana M. Cobo, Ángel Rey, Luis Paisán, Adolfo López de Munain

Journal:

Fertility and Sterility

Year:

2005

Language:

english

File:

PDF, 118 KB

english, 2005

11

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson’s Disease

Vilas, Dolores, Fernández-Santiago, Rubén, Sanchez, Elena, Azcona, Luis J., Santos-Montes, Meritxell, Casquero, Pilar, Argandoña, Lucía, Tolosa, Eduardo, Paisán-Ruiz, Coro

Journal:

Journal of Parkinson s Disease

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

12

Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis

Lina-Marcela Diaz-Gallo, Laura Espino-Paisán, Karin Fransen, María Gómez-García, Suzanne van Sommeren, Carlos Cardeña, Luis Rodrigo, Juan Luis Mendoza, Carlos Taxonera, Antonio Nieto, Guillermo Alcain

Journal:

Inflammatory Bowel Diseases

Year:

2011

Language:

english

File:

PDF, 251 KB

english, 2011

13

Cerebral abnormalities in congenital myotonic dystrophy

Garcia-Alix, Alfredo, Cabañas, Fernando, Morales, Carmen, Pellicer, Adelina, Echevarria, Juncal, Paisan, Luis, Quero, Jose

Journal:

Pediatric Neurology

Year:

1991

Language:

english

File:

PDF, 2.07 MB

english, 1991

14

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 409 KB

english, 2017

15

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency

María-Luisa Martínez-Frías, Jaime L. Frías, Enrique Galán, Rosario Domingo, Luis Paisán, Manuel Blanco

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 358 KB

english, 1992

16

Molecular characterization of PRKN structural variations identified through whole-genome sequencing

Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán-Ruiz, Coro

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 736 KB

english, 2018

17

DK-phocomelia syndrome in a child with a long follow-up

Miguel Urioste, Luis Paisán, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 484 KB

english, 1994

18

Study of polymorphisms in 4q27, 10p15, and 22q13 regions in autoantibodies stratified type 1 diabetes patients

Espino-Paisán, Laura, De La Calle, Hermenegildo, Fernández-Arquero, Miguel, Figueredo, M. Angeles, De La Concha, Emilio G., Urcelay, Elena, Santiago, Jose Luis

Journal:

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

19

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways

Sánchez, Elena, Azcona, Luis J., Paisán-Ruiz, Coro

Journal:

Molecular Neurobiology

Year:

2018

Language:

english

File:

PDF, 4.90 MB

english, 2018

20

Early versus late arteriovenous malformation responders after stereotactic radiosurgery: an international multicenter study

Cohen-Inbar, Or, Starke, Robert M., Paisan, Gabriella, Kano, Hideyuki, Huang, Paul P., Rodriguez-Mercado, Rafael, Almodovar, Luis, Grills, Inga S., Mathieu, David, Silva, Danilo, Abbassy, Mahmoud, Mis

Journal:

Journal of Neurosurgery

Year:

2016

Language:

english

File:

PDF, 2.64 MB

english, 2016

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