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Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin.
- Published in:
- 2017
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- Publication type:
- journal article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6
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- Publication type:
- Article
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265
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- Publication type:
- Article
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98
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- Publication type:
- Article
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 574, doi. 10.1002/pd.6133
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- Publication type:
- Article
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1085, doi. 10.1002/pd.2350
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- Publication type:
- Article
No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1100, doi. 10.3390/genes12071100
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- Publication type:
- Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
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- Publication type:
- Article
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
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- Publication type:
- Article
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Publication type:
- Article
Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
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- Publication type:
- Article
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66
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- Publication type:
- Article
Le secteur agricole: Levier de la transition énergétique au Québec.
- Published in:
- Vecteur Environnement, 2018, v. 51, n. 4, p. 12
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- Publication type:
- Article
Ambassadeur de la relève en environnement.
- Published in:
- Vecteur Environnement, 2018, v. 51, n. 1, p. 22
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- Publication type:
- Article
Un exemple de transfert d'entreprise réussi!
- Published in:
- Vecteur Environnement, 2017, v. 50, n. 3, p. 20
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- Publication type:
- Article
Regard sur la relève en environnement.
- Published in:
- Vecteur Environnement, 2017, v. 50, n. 1, p. 28
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- Publication type:
- Article
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.
- Published in:
- BMC Psychiatry, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12888-022-04213-6
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- Publication type:
- Article
Genetic analysis of adults heterozygous for ALPL mutations.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis.
- Published in:
- Arthritis & Rheumatology, 2020, v. 72, n. 10, p. 1689, doi. 10.1002/art.41387
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32971
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- Publication type:
- Article
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 519, doi. 10.1111/cge.13906
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- Publication type:
- Article
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
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- Publication type:
- Article
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 309, doi. 10.1111/cge.13591
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- Publication type:
- Article
Knowledge exchange sessions on primary health care research findings in public libraries: A qualitative study with citizens in Quebec.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289153
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- Publication type:
- Article
Le chromothripsis: Une forme insoupçonnée de complexification extrême des remaniements chromosomiques.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 3, p. 266, doi. 10.1051/medsci/20143003014
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- Publication type:
- Article
Les remaniements chromosomiques complexes Un paradigme pour l'étude de l'instabilité chromosomique.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 1, p. 55, doi. 10.1051/medsci/20143001014
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- Publication type:
- Article
Clinical and molecular variability in congenital dyserythropoietic anaemia type I.
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- British Journal of Haematology, 2005, v. 130, n. 4, p. 628, doi. 10.1111/j.1365-2141.2005.05642.x
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- Publication type:
- Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
- Published in:
- 2023
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- Publication type:
- Case Study
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8
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- Publication type:
- Article
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0558-8
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- Publication type:
- Article
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
- Published in:
- Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133266
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- Publication type:
- Article
Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
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- Publication type:
- Article
Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 970, doi. 10.1002/humu.23531
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- Publication type:
- Article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
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- Publication type:
- Article
Scaling Up Citizen Workshops in Public Libraries to Disseminate and Discuss Primary Care Research Results: Quasi-Experimental Study.
- Published in:
- JMIR Aging, 2022, v. 5, n. 3, p. 1, doi. 10.2196/39016
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- Publication type:
- Article
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 22, p. 4367, doi. 10.1093/hmg/ddx322
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- Publication type:
- Article
Growth charts in DYRK1A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
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- Publication type:
- Article
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
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- Publication type:
- Article
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1390, doi. 10.1002/ajmg.a.61147
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- Publication type:
- Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
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- Publication type:
- Article
Typical Facial Gestalt in X-Linked Kabuki Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3363, doi. 10.1002/ajmg.a.37864
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- Publication type:
- Article
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1895, doi. 10.1002/ajmg.a.37667
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- Publication type:
- Article
Confirmation of Autosomal Recessive Inheritance of COL2A1 Mutations in Spondyloepiphyseal Dysplasia Congenita: Lessons for Genetic Counseling.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 263, doi. 10.1002/ajmg.a.37374
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- Publication type:
- Article
Identification of Disrupted AUTS2 and EPHA6 Genes by Array Painting in a Patient Carrying a De Novo Balanced Translocation t(3;7) with Intellectual Disability and Neurodevelopment Disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3031, doi. 10.1002/ajmg.a.37350
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- Publication type:
- Article
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 769, doi. 10.1002/ajmg.a.36331
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- Publication type:
- Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
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- Publication type:
- Article
IMPAD1 mutations in two Catel-Manzke like patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
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- Publication type:
- Article