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Page 1
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Among authors: valle d. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
PRODH variants and risk for schizophrenia.
Willis A, Bender HU, Steel G, Valle D. Willis A, et al. Among authors: valle d. Amino Acids. 2008 Nov;35(4):673-9. doi: 10.1007/s00726-008-0111-0. Epub 2008 Jun 5. Amino Acids. 2008. PMID: 18528746 Review.
Functional consequences of PRODH missense mutations.
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Bender HU, et al. Among authors: valle d. Am J Hum Genet. 2005 Mar;76(3):409-20. doi: 10.1086/428142. Epub 2005 Jan 20. Am J Hum Genet. 2005. PMID: 15662599 Free PMC article.
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.
Fallin MD, Lasseter VK, Avramopoulos D, Nicodemus KK, Wolyniec PS, McGrath JA, Steel G, Nestadt G, Liang KY, Huganir RL, Valle D, Pulver AE. Fallin MD, et al. Among authors: valle d. Am J Hum Genet. 2005 Dec;77(6):918-36. doi: 10.1086/497703. Epub 2005 Oct 28. Am J Hum Genet. 2005. PMID: 16380905 Free PMC article.
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM. Sobreira N, et al. Among authors: valle d. Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348816 Free PMC article.
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.
Chen PL, Avramopoulos D, Lasseter VK, McGrath JA, Fallin MD, Liang KY, Nestadt G, Feng N, Steel G, Cutting AS, Wolyniec P, Pulver AE, Valle D. Chen PL, et al. Among authors: valle d. Am J Hum Genet. 2009 Jan;84(1):21-34. doi: 10.1016/j.ajhg.2008.12.005. Am J Hum Genet. 2009. PMID: 19118813 Free PMC article.
685 results