Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

[1]  L. Maldergem Berardinelli-Seip congenital lipodystrophy , 2016 .

[2]  D. Nickerson,et al.  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. , 2018, American journal of human genetics.

[3]  C. López-Otín,et al.  Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome , 2018, Journal of Medical Genetics.

[4]  C. Prives,et al.  Dysfunction of the MDM2/p53 axis is linked to premature aging. , 2017, The Journal of clinical investigation.

[5]  R. Hennekam,et al.  Wiedemann–Rautenstrauch syndrome: A phenotype analysis , 2017, American journal of medical genetics. Part A.

[6]  Carol J. Saunders,et al.  Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A , 2016, American journal of medical genetics. Part A.

[7]  V. Quesada,et al.  Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation , 2016, Journal of Medical Genetics.

[8]  E. Golemis,et al.  POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies , 2016, Gene.

[9]  P. Robinson,et al.  Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy , 2016, European Journal of Human Genetics.

[10]  Amar Singh Bhukya,et al.  Hutchinson-Gilford progeria syndrome , 2015, Indian dermatology online journal.

[11]  J. Baldwin,et al.  POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome , 2015, Human mutation.

[12]  Jason J. Corneveaux,et al.  A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome , 2015, PloS one.

[13]  J. Shendure,et al.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. , 2015, American journal of human genetics.

[14]  A. Vanderver,et al.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations , 2014, Neurology.

[15]  Peter Nürnberg,et al.  Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features , 2014, Nature Genetics.

[16]  D. Sillence,et al.  Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment , 2014, American journal of medical genetics. Part A.

[17]  N. Lévy,et al.  New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update , 2013, European Journal of Human Genetics.

[18]  S. Mundlos,et al.  Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. , 2013, Molecular genetics and metabolism.

[19]  M. Weedon,et al.  An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy , 2013, Nature Genetics.

[20]  K. McBride,et al.  Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A , 2011, American journal of medical genetics. Part A.

[21]  A. Vanderver,et al.  Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. , 2011, American journal of human genetics.

[22]  V. Quesada,et al.  Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. , 2011, American journal of human genetics.

[23]  P. Robinson,et al.  Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene , 2010, American journal of medical genetics. Part A.

[24]  D. Lessel,et al.  A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features , 2010, Molecular Syndromology.

[25]  Y. Crow,et al.  Atypical progeroid syndrome due to heterozygous missense LMNA mutations. , 2009, The Journal of clinical endocrinology and metabolism.

[26]  Peter Nürnberg,et al.  Mutations in PYCR1 cause cutis laxa with progeroid features , 2009, Nature Genetics.

[27]  N. Bishop,et al.  Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I‐IV , 2006, Human mutation.

[28]  S. Gay,et al.  Progeria: A cell culture study and clinical report of familial incidence , 1977, European Journal of Pediatrics.

[29]  I. Mian,et al.  LMNA mutations in atypical Werner's syndrome , 2003, The Lancet.

[30]  Pierre Cau,et al.  Lamin A Truncation in Hutchinson-Gilford Progeria , 2003, Science.

[31]  Laura Scott,et al.  Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.

[32]  A. Shimamoto,et al.  Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[33]  S. Krane,et al.  Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. , 1997, American journal of medical genetics.

[34]  P. Byers,et al.  Inherited disorders of collagen gene structure and expression. , 1989, American journal of medical genetics.

[35]  G. Martin Genetic syndromes in man with potential relevance to the pathobiology of aging. , 1978, Birth defects original article series.

[36]  P. Esposito,et al.  Osteogenesis Imperfecta. , 1928, Proceedings of the Royal Society of Medicine.