Metabuscador

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

por Laissue, Paul
Publicado 2015

The forkhead-box family of transcription factors: Key molecular players in colorectal cancer pathogenesis 06 Biological Sciences 0604 Genetics 11 Medical and Health Sciences 1112 O...

por Laissue, Paul
Publicado 2019

Genómica funcional y medicina molecular del siglo XXI

por Laissue, Paul
Publicado 2011

Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA

por Laissue, Paul, Vaiman, Daniel
Publicado 2020

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

por Prada, Carlos Fernando, Laissue, Paul
Publicado 2014

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

por Patiño, Liliana Catherine, Silgado, Daniel, Laissue, Paul
Publicado 2017

Pregnancy failure and alkaline phosphatases: from mouse genetics to human disease.

por Vatin, Magalie, Bouvier, Sylvie, Bellazzi, Linda, Laissue, Paul, Burgio, Gaetan
Publicado 2012

Interspecific resources: A major tool for quantitative trait locus cloning and speciation research

por L'Hôte, David, Laissue, Paul, Serres, Catherine, Montagutelli, Xavier, Veitia, Reiner A., Vaiman, Daniel
Publicado 2010

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

por Carlosama, Carolina, Elzaiat, Maëva, Patiño, Liliana C, Mateus, Heidi E, Veitia, Reiner A, Laissue, Paul
Publicado 2017

MON-235 Bone Morphogenic Protein Receptor Variants: A New Cause of Primary Ovarian Insufficiency

por Beau, Isabelle, Renault, Lucie, Clémence, Delcour, Patino, Liliana, Delemer, Brigitte, Laissue, Paul, Young, Jacques, Binart, Nadine
Publicado 2019

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

por Patiño, Liliana Catherine, Battu, Rajani, Ortega-Recalde, Oscar, Nallathambi, Jeyabalan, Anandula, Venkata Ramana, Renukaradhya, Umashankar, Laissue, Paul
Publicado 2014

BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency

por Renault, Lucie, Patiño, Liliana C, Magnin, Françoise, Delemer, Brigitte, Young, Jacques, Laissue, Paul, Binart, Nadine, Beau, Isabelle
Publicado 2020

Current needs for human and medical genomics research infrastructure in low and middle income countries

por Forero, Diego A, Wonkam, Ambroise, Wang, Wei, Laissue, Paul, López-Correa, Catalina, Fernández-López, Juan C, Mugasimangalam, Raja, Perry, George
Publicado 2016

Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death

por Vatin, Magalie, Burgio, Gaetan, Renault, Gilles, Laissue, Paul, Firlej, Virginie, Mondon, Françoise, Montagutelli, Xavier, Vaiman, Daniel, Serres, Catherine, Ziyyat, Ahmed
Publicado 2012

Screening for mutations of the FOXO4 gene in premature ovarian failure patients

por Fonseca-Mendoza, Dora Janeth, Restrepo, Carlos M., Laissue, Paul, Garzón, Eliana, Lakhal, Besma, Braham, Rim, Ojeda, Diego, Elghezal, Hatem, Saâd, Ali
Publicado 2012

A pharmacogenomic dissection of a Rosuvastatin-induced rhabdomyolysis case evokes the polygenic nature of adverse drug reactions

por Calderon-Ospina, Carlos-Alberto, Fonseca-Mendoza, Dora Janeth, Hernández-Sómerson, Mario, García, Ana María, Mejia, Adriana, Tamayo-Agudelo, Caroll, Laissue, Paul
Publicado 2020

A first description of the Colombian national registry for rare diseases

por Mateus, Heidi Eliana, Pérez, Ana María, Mesa, Martha Lucía, Escobar, Germán, Gálvez, Jubby Marcela, Montaño, José Ivo, Ospina, Martha Lucía, Laissue, Paul
Publicado 2017

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder

por Castro, Taryn, Mateus, Heidi Eliana, Forero, Diego, Fonseca-Mendoza, Dora Janeth, Restrepo, Carlos M., Talero-Gutiérrez, Claudia, Velez-van-Meerbeke, Alberto, Laissue, Paul
Publicado 2013

Novel genes and mutations in patients affected by recurrent pregnancy loss

por Quintero-Ronderos, Paula, Mercier, Eric, Fukuda, Michiko, González, Ronald, Suarez Martinez, Carlos Fernando, Alfonso Patarroyo, Manuel, Vaiman, Daniel, Gris, Jean-Christophe, Laissue, Paul
Publicado 2017

THBD sequence variants potentially related to recurrent pregnancy loss

por Quintero-Ronderos, Paula, Mercier, Eric, Gris, Jean-Christophe, Esteban-Perez, Clara, Moreno-Ortiz, Harold, Lucena, Elkin, Vaiman, Daniel, Fonseca-Mendoza, Dora Janeth, Laissue, Paul
Publicado 2017