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Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases: HUMAN MUTATION, Hum Mutat, vol.38, issue.2, pp.193-203, 2017. ,
Human RecQ Helicases in DNA Repair, Recombination, and Replication, Annu Rev Biochem, vol.83, issue.1, pp.519-52, 2014. ,
Positional Cloning of the Werner's Syndrome Gene, Science, vol.272, issue.5259, pp.258-62, 1996. ,
The Bloom's syndrome gene product is homologous to RecQ helicases, Cell, vol.83, issue.4, pp.655-66, 1995. ,
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome, Nat Genet, vol.22, issue.1, pp.82-86, 1999. ,
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care, Genet Med, vol.18, issue.5, p.483, 2016. ,
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome, J Med Genet, vol.55, issue.5, pp.329-343, 2018. ,
Lamin a truncation in Hutchinson-Gilford progeria, Science, vol.300, issue.5628, pp.2055-2055, 2003. ,
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature, vol.423, issue.6937, pp.293-301, 2003. ,
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome, Proc Natl Acad Sci, vol.101, issue.24, pp.8963-8971, 2004. ,
Truncated prelamin A expression in HGPS-like patients: a transcriptional study, Eur J Hum Genet EJHG, vol.23, issue.8, pp.1051-61, 2015. ,
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia, Hum Mol Genet, vol.12, issue.16, pp.1995-2001, 2003. ,
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Hum Mol Genet, vol.13, issue.20, pp.2493-2503, 2004. ,
URL : https://hal.archives-ouvertes.fr/hal-01668977
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome, Nucl Austin Tex, vol.9, issue.1, pp.246-57, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01774301
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation, EMBO Mol Med, vol.9, issue.9, pp.1294-313, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01741719
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL), Metabolism, vol.71, pp.213-238, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01680909
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. Cells, vol.5, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01769404
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, vol.209, pp.317-325, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01459433
Autosomal recessive cutis laxa syndrome revisited, Eur J Hum Genet EJHG, vol.17, issue.9, pp.1099-110, 2009. ,
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin, Nat Genet, vol.40, issue.12, pp.1410-1412, 2008. ,
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations, Am J Med Genet A, vol.149, issue.10, pp.2093-2101, 2009. ,
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11. 2 and a frameshift mutation of ERCC6, Eur J Med Genet, vol.54, issue.3, pp.272-276, 2011. ,
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome, Korean J Intern Med, vol.24, issue.1, pp.68-72, 2009. ,
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation, J Dermatol, vol.41, issue.12, pp.1047-52, 2014. ,
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA, Front Endocrinol, vol.9, p.433, 2018. ,
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes, J Med Genet, vol.41, issue.4, pp.304-312, 2004. ,
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy, Am J Med Genet, vol.102, issue.4, pp.359-67, 2001. ,
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy, Neurology, vol.59, issue.4, pp.620-623, 2002. ,
Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective, Semin Cell Dev Biol, vol.29, pp.125-172, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01646524
10 The Premature Aging Characteristics of RecQ Helicases, Aging Explor Complex Phenom, 1980. ,
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases: HUMAN MUTATION, Hum Mutat, vol.38, issue.2, pp.193-203, 2017. ,
Human RecQ Helicases in DNA Repair, Recombination, and Replication, Annu Rev Biochem, vol.83, issue.1, pp.519-52, 2014. ,
Positional Cloning of the Werner's Syndrome Gene, Science, vol.272, issue.5259, pp.258-62, 1996. ,
The Bloom's syndrome gene product is homologous to RecQ helicases, Cell, vol.83, issue.4, pp.655-66, 1995. ,
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome, Nat Genet, vol.22, issue.1, pp.82-86, 1999. ,
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care, Genet Med, vol.18, issue.5, p.483, 2016. ,
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome, J Med Genet, vol.55, issue.5, pp.329-343, 2018. ,
Lamin a truncation in Hutchinson-Gilford progeria, Science, vol.300, issue.5628, pp.2055-2055, 2003. ,
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature, vol.423, issue.6937, pp.293-301, 2003. ,
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome, Proc Natl Acad Sci, vol.101, issue.24, pp.8963-8971, 2004. ,
Truncated prelamin A expression in HGPS-like patients: a transcriptional study, Eur J Hum Genet EJHG, vol.23, issue.8, pp.1051-61, 2015. ,
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia, Hum Mol Genet, vol.12, issue.16, pp.1995-2001, 2003. ,
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Hum Mol Genet, vol.13, issue.20, pp.2493-2503, 2004. ,
URL : https://hal.archives-ouvertes.fr/hal-01668977
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors, Hum Mol Genet, vol.14, issue.11, pp.1503-1516, 2005. ,
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Lamines A et syndromes progéroïdes-Une farnésylation persistante aux conséquences dramatiques. médecine/sciences, vol.24, pp.833-840, 2008. ,
Diseases of the Nuclear Envelope, Cold Spring Harb Perspect Biol, vol.2, issue.2, pp.760-000760, 2010. ,
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update, Eur J Hum Genet, vol.22, issue.8, pp.1002-1013, 2014. ,
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LMNA mutations in atypical Werner's syndrome. The Lancet, vol.362, pp.440-445, 2003. ,
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation, Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc, vol.12, issue.5, pp.427-457, 2008. ,
Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease, vol.40, 2009. ,
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation, Am J Med Genet A, vol.149, issue.11, pp.2387-92, 2009. ,
Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations, J Clin Endocrinol Metab, vol.94, issue.12, pp.4971-83, 2009. ,
Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance, Acta Paediatr Oslo Nor, vol.98, issue.8, pp.1365-1373, 1992. ,
An inherited LMNA gene mutation in atypical Progeria syndrome, Am J Med Genet A, vol.158, issue.11, pp.2881-2888, 2012. ,
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation, J Med Genet, vol.53, issue.11, pp.776-85, 2016. ,
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The 2017 international classification of the Ehlers-Danlos syndromes, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, pp.8-26, 2017. ,
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, Progress in Heritable Soft Connective Tissue Diseases
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VarAFT: a variant annotation and filtration system for human next generation sequencing data, Nucleic Acids Res, 2018. ,
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Integrative genomics viewer, Nat Biotechnol, vol.29, issue.1, p.24, 2011. ,
Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Res, vol.37, issue.9, pp.67-67, 2009. ,
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MutationTaster evaluates diseasecausing potential of sequence alterations, Nat Methods, vol.7, issue.8, p.575, 2010. ,
UMDpredictor: A high-throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution, Hum Mutat, vol.37, issue.5, pp.439-446, 2016. ,
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med Off J Am Coll Med Genet, vol.17, issue.5, pp.405-429, 2015. ,
Variable presentation of Rothmund-Thomson syndrome, Am J Med Genet, vol.95, issue.3, pp.204-211, 2000. ,
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome, J Natl Cancer Inst, vol.95, issue.9, pp.669-74, 2003. ,
The mutation spectrum in RECQL4 diseases, Eur J Hum Genet EJHG, vol.17, issue.2, pp.151-159, 2009. ,
Clinical and genetic variability of oculodentodigital dysplasia, Clin Genet, vol.70, issue.1, pp.71-73, 2006. ,
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis, Hum Mutat, vol.27, issue.3, pp.290-290, 2006. ,
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome, Am J Med Genet A, vol.152, issue.4, pp.994-1003, 2010. ,
Mutations in PIK3R1 cause SHORT syndrome, Am J Hum Genet, vol.93, issue.1, pp.158-66, 2013. ,
Mutations in PYCR1 cause cutis laxa with progeroid features, Nat Genet, vol.41, issue.9, pp.1016-1037, 2009. ,
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities, J Inherit Metab Dis, vol.34, issue.3, pp.731-740, 2011. ,
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa, Am J Hum Genet, vol.97, issue.3, pp.483-92, 2015. ,
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS, Am J Hum Genet, vol.66, issue.6, pp.1766-76, 2000. ,
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature, Am J Med Genet A, vol.124, issue.1, pp.28-34, 2004. ,
Genetic testing for dilated cardiomyopathy in clinical practice, J Card Fail, vol.18, issue.4, pp.296-303, 2012. ,
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies, Biochem Biophys Res Commun, vol.418, issue.2, pp.217-221, 2012. ,
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy, Genet Test Mol Biomark, vol.16, issue.6, pp.543-552, 2012. ,
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature, Acta Myol Myopathies Cardiomyopathies Off J Mediterr Soc Myol, vol.32, issue.1, pp.7-17, 2013. ,
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing, Genet Med, vol.16, issue.8, p.601, 2014. ,
Heart-hand syndrome IV: a second family with LMNA -related cardiomyopathy and brachydactyly: Letter to the Editor, Clin Genet, vol.91, issue.3, pp.499-500, 2017. ,
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acroosteolysis, Jt Bone Spine Rev Rhum, 2018. ,
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Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?, Am J Med Genet, vol.90, issue.1, pp.72-81, 2000. ,
Molecular genetics in classic Ehlers-Danlos syndrome, Am J Med Genet C Semin Med Genet, vol.139, issue.1, pp.17-23, 2005. ,
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes, Sci Rep, vol.8, issue.1, p.9112, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01991357
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome, Nucl Austin Tex, vol.9, issue.1, pp.246-57, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01774301
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation, EMBO Mol Med, vol.9, issue.9, pp.1294-313, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01741719
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL), Metabolism, vol.71, pp.213-238, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01680909
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. Cells, vol.5, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01769404
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, vol.209, pp.317-325, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01459433
Autosomal recessive cutis laxa syndrome revisited, Eur J Hum Genet EJHG, vol.17, issue.9, pp.1099-110, 2009. ,
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin, Nat Genet, vol.40, issue.12, pp.1410-1412, 2008. ,
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations, Am J Med Genet A, vol.149, issue.10, pp.2093-2101, 2009. ,
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa, Eur J Hum Genet, vol.22, issue.7, pp.888-95, 2014. ,
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting, J Invest Dermatol, vol.135, issue.10, pp.2368-76, 2015. ,
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11. 2 and a frameshift mutation of ERCC6, Eur J Med Genet, vol.54, issue.3, pp.272-276, 2011. ,
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome, Korean J Intern Med, vol.24, issue.1, pp.68-72, 2009. ,
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation, J Dermatol, vol.41, issue.12, pp.1047-52, 2014. ,
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA, Front Endocrinol, vol.9, p.433, 2018. ,
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes, J Med Genet, vol.41, issue.4, pp.304-312, 2004. ,
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy, Am J Med Genet, vol.102, issue.4, pp.359-67, 2001. ,
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy, Neurology, vol.59, issue.4, pp.620-623, 2002. ,
, Annexe 2 : Outil d'interprétation des variants tirés du site Maryland