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Origin of Primate Orphan Genes: A Comparative Genomics Approach

Molecular biology and evolution, 2009-03, Vol.26 (3), p.603-612

2009

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Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Molecular psychiatry, 2010-10, Vol.15 (10), p.1023-1033

2010

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A novel variant in the LIPA gene associated with distinct phenotype

Balkan journal of medical genetics, 2023-03, Vol.25 (1), p.93-100

2023

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Multiple intra-abdominal nodules

La revue de medecine interne, 2014-12, Vol.35 (12), p.840-842

2014

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Des nodules péritonéaux multiples

La revue de medecine interne, 2014-12, Vol.35 (12), p.840-842

2014

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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

Human molecular genetics, 2003-09, Vol.12 (17), p.2201-2208

2003

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X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

BMC genomics, 2007-11, Vol.8 (1), p.443-443, Article 443

2007

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Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

Journal of medical genetics, 2013-07, Vol.50 (7), p.455-462

2013

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Six-month outcomes of teduglutide treatment in adult patients with short bowel syndrome with chronic intestinal failure: A real-world French observational cohort study

Clinical nutrition (Edinburgh, Scotland), 2020-09, Vol.39 (9), p.2856-2862

2020

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Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type

Molecular psychiatry, 2003-08, Vol.8 (8), p.745-751

2003

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Incidence and Phenotype at Diagnosis of Very-early-onset Compared with Later-onset Paediatric Inflammatory Bowel Disease: A Population-based Study [1988-2011]

Journal of Crohn's and colitis, 2017-05, Vol.11 (5), p.519

2017

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2 New insights in CF molecular diagnostics applying the next generation sequencing technologies

Journal of cystic fibrosis, 2013-06, Vol.12, p.S48-S48

2013

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The emerging role of structural variations in common disorders: initial findings and discovery challenges

Cytogenetic and genome research, 2008-01, Vol.123 (1-4), p.108-117

2008

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El etiquetado de pacientes en atención primaria. El caso de la cronicidad

Atención primaria, 2017-11, Vol.49 (9), p.508-509

Riera Armengol, Laia

2017

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Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

Cytogenetic and genome research, 2009-01, Vol.125 (4), p.334-340

2009

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MON-PP119: Pregnancy is Possible During Long Term Home Parenteral Nutrition in Patients Having Chronic Intestinal Failure

Clinical nutrition (Edinburgh, Scotland), 2015-09, Vol.34, p.S172-S172

2015

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Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy

American journal of medical genetics. Part A, 2007-05, Vol.143A (9), p.916-920

2007

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P-508 Management of incidental findings after preconception expanded carrier screening: identifying genetic predispositions to cancer and metabolic conditions in 8010 screened ART patients

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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Effet du teduglutide (agoniste du GLP2) à 6 mois dans la cohorte française de patients adultes avec syndrome de grêle court (SGC)

Nutrition clinique et métabolisme, 2018-11, Vol.32 (4), p.247-247

2018

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Implementation of an expanded carrier screening test for recessive genetic disorders in a donor intrauterine insemination program

Fertility and sterility, 2017-09, Vol.108 (3), p.e264-e264

2017

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Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder

American journal of medical genetics, 2003-02, Vol.117B (1), p.70-78

2003

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Grossesse possible chez les patientes atteintes d’insuffisance intestinale en nutrition parentérale à domicile de longue durée

Nutrition clinique et métabolisme, 2016-03, Vol.30 (1), p.56-57

2016

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Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

Human molecular genetics, 2003-04, Vol.12 (8), p.849-858

2003

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P-562 Extended carrier screening using the qCarrier Plus® test in the field of reproductive medicine: retrospective results after five years of experience

Human reproduction (Oxford), 2022-06, Vol.37 (Supplement_1)

2022

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Première étude en “vie réelle” sur l’effet du téduglutide (agoniste du GLP2) à 3 mois dans une cohorte nationale de patients adultes avec syndrome de grêle court

Nutrition clinique et métabolisme, 2017-09, Vol.31 (3), p.246-247

2017

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Origin of Primate Orphan Genes: A Comparative Genomics Approach

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

A novel variant in the LIPA gene associated with distinct phenotype

Multiple intra-abdominal nodules

Des nodules péritonéaux multiples

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

Six-month outcomes of teduglutide treatment in adult patients with short bowel syndrome with chronic intestinal failure: A real-world French observational cohort study

Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type

Incidence and Phenotype at Diagnosis of Very-early-onset Compared with Later-onset Paediatric Inflammatory Bowel Disease: A Population-based Study [1988-2011]

2 New insights in CF molecular diagnostics applying the next generation sequencing technologies

The emerging role of structural variations in common disorders: initial findings and discovery challenges

El etiquetado de pacientes en atención primaria. El caso de la cronicidad

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

MON-PP119: Pregnancy is Possible During Long Term Home Parenteral Nutrition in Patients Having Chronic Intestinal Failure

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy

P-508 Management of incidental findings after preconception expanded carrier screening: identifying genetic predispositions to cancer and metabolic conditions in 8010 screened ART patients

Effet du teduglutide (agoniste du GLP2) à 6 mois dans la cohorte française de patients adultes avec syndrome de grêle court (SGC)

Implementation of an expanded carrier screening test for recessive genetic disorders in a donor intrauterine insemination program

Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder

Grossesse possible chez les patientes atteintes d’insuffisance intestinale en nutrition parentérale à domicile de longue durée

Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

P-562 Extended carrier screening using the qCarrier Plus® test in the field of reproductive medicine: retrospective results after five years of experience

Première étude en “vie réelle” sur l’effet du téduglutide (agoniste du GLP2) à 3 mois dans une cohorte nationale de patients adultes avec syndrome de grêle court

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