Critical consequences of finding three pathogenic mutations in an individual with recessive diseaseHALSALL, Sally; NICHOLAS, Adeline K; THORNTON, Gemma et al.Journal of medical genetics. 2010, Vol 47, Num 11, pp 769-770, issn 0022-2593, 2 p.Article

Genetic analysis of ciliary pattern mutants in Paraurostyla weisseiJERKA-DZIADOSZ, M; MUSZYNSKA, K; FRONTCZAK, M et al.Acta protozoologica. 1989, Vol 28, Num 2, pp 93-110, issn 0065-1583, 18 p.Article

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegenerationMETZLER, M.Clinical genetics. 2011, Vol 79, Num 3, pp 221-222, issn 0009-9163, 2 p.Article

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

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive Cone-Rod DystrophyPASADHIKA, Sirichai; FISHMAN, Gerald A; ALLIKMETS, Rando et al.American journal of ophthalmology. 2009, Vol 148, Num 2, pp 260-265, issn 0002-9394, 6 p.Article

Tumor suppressors: recessive mutations that lead to cancerHANSEN, M. F; CAVENEE, W. K.Cell (Cambridge). 1988, Vol 53, Num 2, pp 172-173, issn 0092-8674Article

Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)TREVAS MACIEL, A.American journal of medical genetics. 1988, Vol 31, Num 3, pp 483-487, issn 0148-7299Article

Autosomal recessive inheritance of Nager acrofacial dysostosisCHEMKE, J; MOGILNER, B. M; BEN-ITZHAK, I et al.Journal of medical genetics. 1988, Vol 25, Num 4, pp 230-232, issn 0022-2593Article

Dimerization of the human melanocortin 1 receptor : Functional consequences and dominant-negative effectsSANCHEZ-LAORDEN, Berta L; SANCHEZ-MAS, Jesus; MARTINEZ-ALONSO, Emma et al.Journal of investigative dermatology. 2005, Vol 126, Num 1, pp 172-181, issn 0022-202X, 10 p.Article

Carrier risk calculations for recessive diseases when not all the mutant alleles are detectableCURNOW, R. N.American journal of medical genetics. 1994, Vol 52, Num 1, pp 108-114, issn 0148-7299Article

Select Heterozygous Keap1 Mutations Have a Dominant-Negative Effect on Wild-Type Keap1 In VivoSUZUKI, Takafumi; MAHER, Jonathan; YAMAMOTO, Masayuki et al.Cancer research (Chicago, Ill.). 2011, Vol 71, Num 5, pp 1700-1709, issn 0008-5472, 10 p.Article

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder PopulationCHONG, Jessica X; OUWENGA, Rebecca; ANDERSON, Rebecca L et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 608-620, issn 0002-9297, 13 p.Article

Sequencing: the next generation. Moving beyond population-based recessive disease carrier screeningKOBELKA, C. E.Clinical genetics. 2011, Vol 80, Num 1, pp 25-26, issn 0009-9163, 2 p.Article

Novel dominant-negative mutant of GATA3 in HDR syndromeOHTA, Masaaki; EGUCHI-ISHIMAE, Minenori; EGUCHI, Mariko et al.Journal of molecular medicine (Berlin. Print). 2011, Vol 89, Num 1, pp 43-50, issn 0946-2716, 8 p.Article

The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulationCASARI, Caterina; PINOTTI, Mirko; LANCELLOTTI, Stefano et al.Blood. 2010, Vol 116, Num 24, pp 5371-5376, issn 0006-4971, 6 p.Article

Generation of Medaka Fish Haploid Embryonic Stem CellsMEISHENG YI; NI HONG; YUNHAN HONG et al.Science (Washington, D.C.). 2009, Vol 326, Num 5951, pp 430-433, issn 0036-8075, 4 p.Article

Dominant-negative but not gain-of-function effects of a p53.R270H mutation in mouse epithelium tissue after DNA damageWIJNHOVEN, Susan W. P; SPEKSNIJDER, Ewoud N; VAN STEEG, Harry et al.Cancer research (Baltimore). 2007, Vol 67, Num 10, pp 4648-4656, issn 0008-5472, 9 p.Article

Differential response to interferon-γ therapy in a family with dominant negative partial interferon-y receptorl deficiencySMYTH, Anita E; JACKSON, Paul; LAMMAS, David et al.European journal of pediatrics. 2006, Vol 165, Num 1, pp 71-72, issn 0340-6199, 2 p.Article

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pTÜRKMEN, S; DEMIRHAN, O; HOFFMANN, K et al.Journal of medical genetics. 2006, Vol 43, Num 5, pp 461-464, issn 0022-2593, 4 p.Article

New autosomal recessive form of ameliaMICHAUD, J; FILIATRAULT, D; DALLAIRE, L et al.American journal of medical genetics. 1995, Vol 56, Num 2, pp 164-167, issn 0148-7299Article

Phenotypically dissimilar hypophosphatasia in two sibshipsMACFARLANE, J. D; KROON, H. M; VAN DER HARTEN, J. J et al.American journal of medical genetics. 1992, Vol 42, Num 1, pp 117-121, issn 0148-7299Article

Megacystis-microcolon-intestinal hypoperiastalsis syndrome (MMIHS), an autosomal recessive disorder : clinical reports and review of the literatureANNEREN, G; MEURLING, S; OLSEN, L et al.American journal of medical genetics. 1991, Vol 41, Num 2, pp 251-254, issn 0148-7299Article

Carrier screening for cystic fibrosis and other autosomal recessive diseasesTEN KATE, L. P.American journal of human genetics. 1990, Vol 47, Num 2, pp 359-361, issn 0002-9297, 3 p.Article

Roberts syndrome of X-linked amelia ?GERSHONI-BARUCH, R; DRUGAN, A; BRONSHTEIN, M et al.American journal of medical genetics. 1990, Vol 37, Num 4, pp 569-572, issn 0148-7299Article

A probably distinct autosomal recessive thoraco-limb dysplasiaRIVERA, H; PEREZ-SALAS, J. M; NAZARA, Z et al.Journal of medical genetics. 1988, Vol 25, Num 9, pp 619-622, issn 0022-2593Article