Nonsense-mediated decay in genetic disease: Friend or foe?MILLER, Jake N; PEARCE, David A.Mutation research. Reviews in mutation research. 2014, Vol 762, pp 52-64, issn 1383-5742, 13 p.Article

An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosisPAGLIARDINI, Luca; GENTILINI, Davide; VIGANO, Paola et al.Journal of medical genetics. 2013, Vol 50, Num 1, pp 43-46, issn 0022-2593, 4 p.Article

Contribution of genetic factors to noise-induced hearing loss: A human studies reviewSLIWINSKA-KOWALSKA, Mariola; PAWELCZYK, Malgorzata.Mutation research. Reviews in mutation research. 2013, Vol 752, Num 1, pp 61-65, issn 1383-5742, 5 p.Article

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathyEDVARDSON, Simon; OZ, Shimrit; AZIZ ABULHIJAA, Fida et al.Journal of medical genetics. 2013, Vol 50, Num 2, pp 118-123, issn 0022-2593, 6 p.Article

Inheritance of the chronic myeloproliferative neoplasms. A systematic reviewRANJAN, A; PENNINGA, E; JELSIG, A. M et al.Clinical genetics. 2013, Vol 83, Num 2, pp 99-107, issn 0009-9163, 9 p.Article

Mutation in MPDZ causes severe congenital hydrocephalusAL-DOSARI, Mohammed S; AL-OWAIN, Mohammed; TULBAH, Maha et al.Journal of medical genetics. 2013, Vol 50, Num 1, pp 54-58, issn 0022-2593, 5 p.Article

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and familiesREIFF, M; ROSS, K; MULCHANDANI, S et al.Clinical genetics. 2013, Vol 83, Num 1, pp 23-30, issn 0009-9163, 8 p.Article

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?MCGOWAN, Ruth; CHALLONER, Benjamin R; ROSS, Sarah et al.Clinical genetics. 2013, Vol 83, Num 2, pp 187-190, issn 0009-9163, 4 p.Article

hTERT: Another brick in the wall of cancer cellsLAMY, Evelyn; GOETZ, Victoria; ERLACHER, Miriam et al.Mutation research. Reviews in mutation research. 2013, Vol 752, Num 2, pp 119-128, issn 1383-5742, 10 p.Article

How fruit flies came to launch the chromosome theory of heredityCARLSON, Elof Axel.Mutation research. Reviews in mutation research. 2013, Vol 753, Num 1, pp 1-6, issn 1383-5742, 6 p.Article

A Fragile X Sibship from a Consanguineous Family With a Compound Heterozygous Female and Partially Methylated Full Mutation MaleSORENSEN, Page L; BASUTA, Kirin; MENDOZA-MORALES, Guadalupe et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1221-1224, issn 1552-4825, 4 p.Article

'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patientCAMUS, D; SHINAR, Y; AAMAR, S et al.Clinical genetics. 2012, Vol 82, Num 3, pp 288-291, issn 0009-9163, 4 p.Article

17q12 Microdeletion Syndrome: Three Patients Illustrating the Phenotypic SpectrumDIXIT, Abhijit; PATE, Chirag; HARRISON, Rachel et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2317-2321, issn 1552-4825, 5 p.Article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersZUFFEREY, Flore; SHERR, Elliott H; AYLWARD, Elizabeth et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 660-668, issn 0022-2593, 9 p.Article

A Benign Form of Congenital Anterolateral Bowing of the Tibia Associated With Ipsilateral Polydactyly of the Hallux: Case Report and Literature ReviewJIUHUI HAN; LEI QU; YAZHOU LI et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1742-1749, issn 1552-4825, 8 p.Article

A Comprehensive Study to Determine Heterogeneity of Autosomal Recessive Nonsyndromic Hearing Loss in IranBABANEJAD, Mojgan; FATTAHI, Zohreh; SMITH, Richard J. H et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2485-2492, issn 1552-4825, 8 p.Article

A Fiber Chimeric CRAd Vector Ad5/11-D24 Double-Armed with TRAIL and Arresten for Enhanced Glioblastoma TherapyXING LI; QINWEN MAO; DONGYANG WANG et al.Human gene therapy. 2012, Vol 23, Num 6, pp 589-596, issn 1043-0342, 8 p.Article

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New GuineaMENDEZ, Fernando L; WATKINS, Joseph C; HAMMER, Michael F et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 265-274, issn 0002-9297, 10 p.Article

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)ABDEL-SALAM, Ghada M. H; SCHAFFER, Ashleigh E; ZAKI, Maha S et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2788-2796, issn 1552-4825, 9 p.Article

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNA13 Causes Auriculocondylar SyndromeRIEDER, Mark J; GREEN, Glenn E; AMIEL, Jeanne et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 907-914, issn 0002-9297, 8 p.Article

A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feetAL-QATTAN, M. M.Clinical genetics. 2012, Vol 82, Num 5, pp 502-504, issn 0009-9163, 3 p.Article

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalisCONNELL, F. C; KALIDAS, K; OSTERGAARD, P et al.Clinical genetics. 2012, Vol 81, Num 2, pp 191-197, issn 0009-9163, 7 p.Article

Complete Trisomy 10p Resulting From an Extra Stable Telocentric ChromosomeLOZIC, Bernarda; CULIC, Vida; LASAN, Ruzica et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1778-1781, issn 1552-4825, 4 p.Article

Deletion of Fiiamin A in Two Female Patients With Periventricular Nodular HeterotopiaWARMAN CHARDON, Jodi; MIENOT, Cyril; ARADHYA, Swaroop et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1512-1516, issn 1552-4825, 5 p.Article

Duplication of 18q21.32―q22.3 Identified in a Stillborn and Two Relatives With Minimal Dysmorphic FeaturesHENSON, Kaylee E; HINES, Karrie A; WEAVER, David D et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1788-1792, issn 1552-4825, 5 p.Article