In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg SyndromeCARMIGNAC, Virginie; THEVENON, Julien; RENARD, Marjolijn et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 950-957, issn 0002-9297, 8 p.Article

Osteogenesis imperfecta type IIA: evidence for dominant inheritanceYOUNG, I. D; THOMPSON, E. M; HALL, C. M et al.Journal of medical genetics. 1987, Vol 24, Num 7, pp 386-389, issn 0022-2593Article

R75Q Dominant Mutation in GJB2 Gene Silenced by the in Cis Recessive Mutation c.35delGLOSSA, Sandra; CHINETTI, Viviana; CORVINO, Virginia et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2658-2660, issn 1552-4825, 3 p.Article

A new dominantly inherited pure cerebellar ataxia, SCA 30STOREY, E; BAHLO, M; FAHEY, M et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 4, pp 408-411, issn 0022-3050, 4 p.Article

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical CoresMAJCZENKO, Karen; DAVIDSON, Ann E; LI, Jun Z et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 365-371, issn 0002-9297, 7 p.Article

Evidence for Autosomal Dominant Inheritance of Ablepharon―Macrostomia SyndromeROHENA, Luis; KUEHN, Devon; MARCHEGIANI, Shannon et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 850-854, issn 1552-4825, 5 p.Article

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachmentRICHARDS, Allan J; MEREDITH, Sarah; POULSON, Arabella et al.Investigative ophthalmology & visual science. 2005, Vol 46, Num 2, pp 663-668, issn 0146-0404, 6 p.Article

Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scoresBOEHNKE, M.American journal of human genetics. 1990, Vol 47, Num 2, pp 218-227, issn 0002-9297, 10 p.Article

Rapports et communications. II: Maladies dominantes à expressivité variable/13èmes Journées européennes de conseil génétique, Athènes, Grèce, 2-5 octobre 1987 = Reports and communications. II: Dominant disease with variable expressivity/13th european days of genetic counseling, Athens, Greece, 2-5 October 1987ROBERT, J. M.Journal de génétique humaine. 1988, Vol 26, Num 3, pp 141-274, issn 0021-7743Conference Proceedings

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentationYORIFUJI, Tohru; KAWAKITA, Rie; HOSOKAWA, Yuki et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 642-643, issn 0022-2593, 2 p.Article

A dominant negative mutation of neuronal connexin 36 that blocks intercellular permeabilityPLACANTONAKIS, Dimitris; CICIRATA, Federico; WELSH, John P et al.Molecular brain research. 2002, Vol 98, Num 1-2, pp 15-28, issn 0169-328XArticle

Progressive bilateral nasal alar collapse : a dominantly inherited traitCOLE, H; BODURTHA, J; SALBERT, B. A et al.American journal of medical genetics. 1992, Vol 42, Num 1, pp 88-89, issn 0148-7299Article

Autosomal dominant inheritance of small kidneysKAPLAN, B. S; MILNER, L. S; JEQUIER, S et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 120-126, issn 0148-7299, 7 p.Article

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathiesKLEIN, C. J; WU, Y; KRUCKEBERG, K. E et al.Journal of neurology, neurosurgery and psychiatry. 2005, Vol 76, Num 7, pp 1022-1024, issn 0022-3050, 3 p.Article

Dominantly inherited syndromic blepharophimosisBIXLER, D.American journal of medical genetics. 1989, Vol 33, Num 4, issn 0148-7299, 551 [1 p.]Article

Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal gangliaMCLEOD, D. R; HANLEY, D. A; MCARTHUR, R. G et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 32-35, issn 0148-7299, 4 p.Article

Variable expressivity of autosomal dominant microcornea with cataractSALMON, J. F; WALLIS, C. E; MURRAY, A. D. N et al.Archives of ophthalmology (1960). 1988, Vol 106, Num 4, pp 505-510, issn 0003-9950Article

Mate choice, monogamy and mutational loadMCLEAN, K. R; MANNING, J. T.Journal of theoretical biology. 1985, Vol 116, Num 3, pp 369-376, issn 0022-5193Article

Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?AL-AWADI, S. A; NAGUIB, K. K; FARAG, T. I et al.Journal of medical genetics. 1987, Vol 24, Num 6, pp 369-372, issn 0022-2593Article

Transmission héréditaire et manifestation des gènes dominants à pénétrance variable: aspects évolutifsRUVINSKIJ, A. O.Genetika. 1987, Vol 23, Num 6, pp 1038-1049, issn 0016-6758Article

Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasiaSCHAEFER, B; STEIN, S; OSHMAN, D et al.Clinical genetics. 1986, Vol 30, Num 5, pp 381-391, issn 0009-9163Article

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutationsPITCEATHLY, Robert D. S; TOMLINSON, Susan E; SWEENEY, Mary G et al.Journal of neurology, neurosurgery and psychiatry. 2013, Vol 84, Num 1, pp 107-110, issn 0022-3050, 4 p.Article

Exome Sequencing Reveals DNAJB6 Mutations in Dominantly-Inherited MyopathyHARMS, Matthew B; BRIAN SOMMERVILLE, R; ALLRED, Peggy et al.Annals of neurology. 2012, Vol 71, Num 3, pp 407-416, issn 0364-5134, 10 p.Article

Dual Left Anterior Descending Artery With Dominant Long Left Anterior Descending Artery Ascending as Posterior Interventricular ArterySAREMI, Farhood; ABOLHODA, Amir.The Annals of thoracic surgery. 2010, Vol 90, Num 3, issn 0003-4975, p. 1022Article

Barber―Say Syndrome in a Father and DaughterROCHE, Nathalie; HOUTMEYERS, Philippe; JANSSENS, Sandra et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2563-2568, issn 1552-4825, 6 p.Article