Results 131 to 140 of about 8,531 (188)

Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]

Hered Cancer Clin Pract
Dwarte TM, Alli R, Srinivasa S, Noon F, Perera Kimmantudawage S, Gordon L, Beshay V, Joshua AM, Ruiz Araujo R, Jalilian C, Thomas DM, Smith MJ, Winship I, Ballinger ML, Li M, Tucker KM, Courtney EK.   +16 more
europepmc   +1 more source

Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur. [PDF]

Int J Mol Sci
Lin SY, Chen M, Chang SP, Ma GC, Lee DJ, Yan A, Hsieh HN, Shen MC.   +7 more
europepmc   +1 more source

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]

J Med Genet
Damen L, Broekema MF, Vogel MJ, Korpershoek E, Koudijs MJ, Boersma BR, Dreijerink KM, Zondervan PJ, Dubbink HJ, van Hest LP.   +9 more
europepmc   +1 more source

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity. [PDF]

Am J Case Rep
Zeng W, Lin S, Zheng J, Zheng Z, Li C, Yang G, Yao J, Duan S.   +7 more
europepmc   +1 more source

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants. [PDF]

JCO Precis Oncol
Martins N, Terradas M, Garcia-Pelaez J, Sommer AK, Demidov G, Matalonga L, Ramos-Muntada M, Te Paske IBAW, Spier I, Mensenkamp A, Schuurs-Hoeijmakers J, Gullo I, São José C, Pedro AM, Gouveia Silva R, Sousa AB, Amoroso Canão P, Fernandes S, Garrido L, Dupont J, Maia S, Sousa G, Irmejs A, Barili V, Blatnik A, Rofes P, Brunet J, Capellá G, Laurie S, Lázaro C, Hoogerbrugge N, de Voer RM, Aretz S, Oliveira C, Valle L.   +34 more
europepmc   +1 more source

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel <i>ASXL3</i> Germline Variant and Expanding the Clinical Spectrum. [PDF]

Children (Basel)
Mariano D, Petrone V, Madia F, Severino M, Basso L, Capra V, Vari MS, Marras A, Tantari G, d'Annunzio G.   +9 more
europepmc   +1 more source

Clinical relevance of mosaic variants detected by exome sequencing. [PDF]

J Allergy Clin Immunol
Ghosh R, Fazal Z, Oler AJ, Tokita MJ, Lewis KL, Paul AJ, Schmitz EG, Saucier N, Yan J, Kamen M, Seifert BA, NIAID Centralized Sequencing Program,, Klion AD, Khoury P, Delmonte OM, Notarangelo LD, Freeman AF, Zerbe CS, Uzel G, Metcalfe DD, Komarow HD, Carter MC, McDermott DH, Murphy PM, Olivier KN, Fuss I, Strober W, Rao VK, Bergerson JRE, Almeida de Jesus A, Goldbach-Mansky R, Al-Herz W, Holland SM, Cooper MA, Similuk MN, Walkiewicz MA.   +35 more
europepmc   +1 more source

Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue. [PDF]

Mol Genet Genomic Med
Urban RM, Kanwar N, Holdren MA, Hoenig MF, Rust LM, Wick MJ, Ferber MJ, Niu Z, Gupta S, Shen W.   +9 more
europepmc   +1 more source

Germline mosaicism in a family with MBD5 haploinsufficiency

, 2023
openaire   +1 more source

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation. [PDF]

J Allergy Clin Immunol
Schmitz EG, Paul AJ, Ghosh R, Saucier N, Kolicheski A, Risma SI, McDaniels KP, Liu M, Lewis KL, de Jesus AA, Alehashemi S, Fronick CC, Stein D, Dominguez D, Hiraki LT, Lee JH, Norman S, Peng CR, Ward BR, Pettiford LH, Platt A, Lawrence MG, Rocco JM, Al-Herz W, Zerbe CS, Atkinson TP, Peng XP, Allenspach EJ, Hoytema van Konijnenburg DP, Platt CD, Elkins M, Walter JE, Bleesing JJ, Klion A, Ramaswami R, Uzel G, Lionakis MS, Dissanayake D, Su HC, Cortese I, Fuss IJ, Bergerson JRE, Dropulic L, Sereti I, Lisco A, Itan Y, Milner JD, Bogunovic D, Goldbach-Mansky R, Rao VK, Delmonte OM, Notarangelo LD, Keller MD, Durkee-Shock J, Cohen JI, Similuk MN, Holland SM, Griffith M, Griffith OL, Vogel TP, Canna S, Freeman AF, Walkiewicz MA, Cooper MA.   +63 more
europepmc   +1 more source