An Inherited LMNA Gene Mutation in Atypical Progeria SyndromeDOUBAJ, Yassamine; DE SANDRE-GIOVANNOLI, Annachiara; VERA, Esteves-Vieira et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2881-2887, issn 1552-4825, 7 p.Article

Somatic mosaicism in a mother of two children with Pitt―Hopkins syndromeSTEINBUSCH, Cvm; ROOZENDAAL, Kep Van; SCHRANDER-STUMPEL, Ctrm et al.Clinical genetics. 2013, Vol 83, Num 1, pp 73-77, issn 0009-9163, 5 p.Article

Paternal mosaicism of an STXBP1 mutation in OSSAITSU, H; HOSHINO, H; HAYASAKA, K et al.Clinical genetics. 2011, Vol 80, Num 5, pp 484-488, issn 0009-9163, 5 p.Article

Somatic mosaicism in healthy human tissuesDE, Subhajyoti.Trends in genetics (Regular ed.). 2011, Vol 27, Num 6, pp 217-223, issn 0168-9525, 7 p.Article

Somatic gene mutation and human disease other than cancer: An updateERICKSON, Robert P.Mutation research. Reviews in mutation research. 2010, Vol 705, Num 2, pp 96-106, issn 1383-5742, 11 p.Article

L1 retrotransposition in human neural progenitor cellsCOUFAL, Nicole G; GARCIA-PEREZ, José L; PENG, Grace E et al.Nature (London). 2009, Vol 460, Num 7259, pp 1127-1131, issn 0028-0836, 5 p.Article

Somatic retrotransposition alters the genetic landscape of the human brainKENNETH BAILLIE, J; BARNETT, Mark W; TALBOT, Richard T et al.Nature (London). 2011, Vol 479, Num 7374, pp 534-537, issn 0028-0836, 4 p.Article

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropeniaMALCOV, Mira; RECHES, Adi; BEN-YOSEF, Dalit et al.Prenatal diagnosis. 2010, Vol 30, Num 3, pp 207-211, issn 0197-3851, 5 p.Article

PHOX2B Germline and Somatic Mutations in Late-Onset Central Hypoventilation SyndromeTROCHET, Delphine; DE PONTUAL, Loic; STRAUS, Christian et al.American journal of respiratory and critical care medicine. 2008, Vol 177, Num 8, pp 906-911, issn 1073-449X, 6 p.Article

Pseudohypoparathyroidism Type la and the GNAS p.R231H Mutation: Somatic Mosaicism in a Mother With Two Affected SonsYING FAI NGAI; CHIJIWA, Chieko; MERCIMEK-MAHMUTOGLU, Saadet et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 11, pp 2784-2790, issn 1552-4825, 7 p.Article

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndromeKROL, Rafal Przybyslaw; NOM, Kandai; YOSHIKAWA, Norishige et al.Nephrology, dialysis, transplantation (Print). 2008, Vol 23, Num 8, pp 2525-2530, issn 0931-0509, 6 p.Article

First description of somatic mosaicism in MYH9 disordersKUNISHIMA, Shinji; MATSUSHITA, Tadashi; YOSHIHARA, Takao et al.British journal of haematology. 2005, Vol 128, Num 3, pp 360-365, issn 0007-1048, 6 p.Article

Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patientMEHRAEIN, Yasmin; EHLHARDT, Sandra; WAGNER, Arnold et al.American journal of medical genetics. 2004, Vol 131A, Num 2, pp 179-185, issn 0148-7299, 7 p.Article

Nevo epidérmico acantolítico y disqueratósico = Acantholytic dyskeratotic epidermal naevusRUIZ-VILLAVERDE, Ricardo; BLASCO, José; ROMERO, Javier et al.Actas dermo-sifiliográficas (Ed. impresa). 2004, Vol 95, Num 2, pp 111-112, issn 0001-7310, 2 p.Article

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscleJUAN-MATEU, J; PARADAS, C; OLIVE, M et al.Clinical genetics. 2012, Vol 82, Num 6, pp 574-578, issn 0009-9163, 5 p.Article

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) geneEGGERMANN, Thomas; ZERRES, Klaus; ANHUF, Dirk et al.European journal of human genetics. 2005, Vol 13, Num 3, pp 309-313, issn 1018-4813, 5 p.Article

Somatic Mosaicism and the Phenotypic Expression of COL2A1 MutationsNAGENDRAN, Sonali; RICHARDS, Allan J; MCNINCH, Annie et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1204-1207, issn 1552-4825, 4 p.Article

Inheritance and Variable Expression in Rubinstein—Taybi SyndromeBARTSCH, Oliver; KRESS, Wolfram; KEMPF, Olga et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 9, pp 2254-2261, issn 1552-4825, 8 p.Article

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutationPARODI, S; VOLLONO, C; BAGLIETTO, M. P et al.Clinical genetics. 2010, Vol 78, Num 3, pp 289-293, issn 0009-9163, 5 p.Article

Diagnosis of Fanconi anemia in patients with bone marrow failurePINTO, Fernando O; LEBLANC, Thierry; SOCIE, Gérard et al.Haematologica (Roma). 2009, Vol 94, Num 4, pp 487-495, issn 0390-6078, 9 p.Article

UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresisRAPAKKO, Katrin; KOKKONEN, Hannaleena; LEISTI, Jaakko et al.American journal of medical genetics. 2004, Vol 124A, Num 3, pp 248-252, issn 0148-7299, 5 p.Article

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndromeBOZTUG, K; GERMESHAUSEN, M; AVEDILLO DIEZ, I et al.Clinical genetics. 2008, Vol 74, Num 1, pp 68-74, issn 0009-9163, 7 p.Article

Somatic mosaicism in the Wiskott―Aldrich syndrome: Molecular and functional characterization of genotypic revertantsDAVIS, Brian R; QING YAN; BUI, Jacquelin H et al.Clinical immunology (Orlando, Fla. Print). 2010, Vol 135, Num 1, pp 72-83, issn 1521-6616, 12 p.Article

Intermediate phenotypes in patients with autosomal dominant hyper-lgE syndrome caused by somatic mosaicismHSU, Amy P; SOWERWINE, Kathryn J; MILNER, Joshua D et al.Journal of allergy and clinical immunology. 2013, Vol 131, Num 6, pp 1586-1593, issn 0091-6749, 8 p.Article

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel SequencingIZAWA, Kazushi; HIJIKATA, Atsushi; NISHIKOMORI, Ryuta et al.DNA research. 2012, Vol 19, Num 2, pp 143-152, issn 1340-2838, 10 p.Article