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

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

'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

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

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathiesLAMBERT, L; BIENVENU, T; MOUSTAÏNE, A et al.Clinical genetics. 2012, Vol 82, Num 5, pp 499-501, issn 0009-9163, 3 p.Article

Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutationYE, Y; CONG, P; YU, P et al.Clinical genetics. 2012, Vol 82, Num 3, pp 295-296, issn 0009-9163, 2 p.Article

Two double heterozygotes in a South African Afrikaner family: implications for BRCA1 and BRCA2 predictive testingLOUBSER, F; DE VILLIERS, Jnp; DER MERWE, Nc Van et al.Clinical genetics. 2012, Vol 82, Num 6, pp 599-600, issn 0009-9163, 2 p.Article

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genesBARTOLI, M; NEGRE, P; WEIN, N et al.Clinical genetics. 2012, Vol 81, Num 1, pp 99-101, issn 0009-9163, 3 p.Article

When 'UPS' fails to deliver: a novel gene associated with the ubiquitin-proteasome system causes familial ALSPETKAU, T. L.Clinical genetics. 2012, Vol 81, Num 2, pp 125-126, issn 0009-9163, 2 p.Article

A prevalent founder mutation and genotype―phenotype correlations of OTOF in Japanese patients with auditory neuropathyMATSUNAGA, T; MUTAI, H; SUGIUCHI, T et al.Clinical genetics. 2012, Vol 82, Num 5, pp 425-432, issn 0009-9163, 8 p.Article

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertensionEYRIES, M; COULET, F; PEARSON, C. E et al.Clinical genetics. 2012, Vol 82, Num 2, pp 173-179, issn 0009-9163, 7 p.Article

Adoption and the communication of genetic risk: experiences in Huntington diseaseBOMBARD, Y; SEMAKA, A; HAYDEN, M. R et al.Clinical genetics. 2012, Vol 81, Num 1, pp 64-69, issn 0009-9163, 6 p.Article

BAG3-related myofibrillar myopathy in a Chinese familyLEE, H. C; CHERK, S. W; CHAN, S. K et al.Clinical genetics. 2012, Vol 81, Num 4, pp 394-398, issn 0009-9163, 5 p.Article

BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa RicaGUTIERREZ ESPELETA, G. A; LIACUACHAQUI, M; GARCIA-JIMENEZ, L et al.Clinical genetics. 2012, Vol 82, Num 5, pp 484-488, issn 0009-9163, 5 p.Article

CCMG statement on gene patentsRICHER, J; NELSON, T. N; EVANS, J et al.Clinical genetics. 2012, Vol 82, Num 5, pp 405-407, issn 0009-9163, 3 p.Article

CHD7 mutations causing CHARGE syndrome are predominantly of paternal originPAULI, S; VON VELSEN, N; BURFEIND, P et al.Clinical genetics. 2012, Vol 81, Num 3, pp 234-239, issn 0009-9163, 6 p.Article

Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutationsCHOONG, S. S; LATIFF, Z. A; MOHAMED, M et al.Clinical genetics. 2012, Vol 82, Num 6, pp 564-568, issn 0009-9163, 5 p.Article

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutationsAKAWI, N. A; AL-GAZALI, L; ALI, B. R et al.Clinical genetics. 2012, Vol 82, Num 2, pp 147-156, issn 0009-9163, 10 p.Article

Direct to consumer genetic testing: a systematic review of position statements, policies and recommendationsSKIRTON, H; GOLDSMITH, L; JACKSON, L et al.Clinical genetics. 2012, Vol 82, Num 3, pp 210-218, issn 0009-9163, 9 p.Article

Doubling the referral rate of monogenic diabetes through a nationwide information campaign ― update on glucokinase gene mutations in a Polish cohortBOROWIEC, M; FENDLER, W; ANTOSIK, K et al.Clinical genetics. 2012, Vol 82, Num 6, pp 587-590, issn 0009-9163, 4 p.Article

Effects of informed consent for individual genome sequencing on relevant knowledgeKAPHINGST, K. A; FACIO, F. M; CHENG, M.-R et al.Clinical genetics. 2012, Vol 82, Num 5, pp 408-415, issn 0009-9163, 8 p.Article

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosisHUIJGEN, R; STORK, Adm; DEFESCHE, J. C et al.Clinical genetics. 2012, Vol 81, Num 1, pp 24-28, issn 0009-9163, 5 p.Article

From mouse to humans: discovery of the CACNG2 pain susceptibility geneNISSENBAUM, J.Clinical genetics. 2012, Vol 82, Num 4, pp 311-320, issn 0009-9163, 10 p.Article