Estivill X - Search Results

1

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

Mallolas J, Vilaseca MA, Pavia C, Lambruschini N, Cambra FJ, Campistol J, Gómez D, Carrió A, Estivill X, Milà M. Mallolas J, et al. Among authors: estivill x. J Mol Med (Berl). 2001;78(12):721-4. doi: 10.1007/s001090000160. J Mol Med (Berl). 2001. PMID: 11434725

2

Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

Mallolas J, Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Estivill X, Milà M. Mallolas J, et al. Among authors: estivill x. Hum Mutat. 1998;11(6):482. doi: 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E. Hum Mutat. 1998. PMID: 10200057

3

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M. Mallolas J, et al. Among authors: estivill x. Hum Genet. 1999 Nov;105(5):468-73. doi: 10.1007/s004390051132. Hum Genet. 1999. PMID: 10598814

4

[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].

Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F. Milà M, et al. Among authors: estivill x. Med Clin (Barc). 1999 Jun 19;113(2):46-9. Med Clin (Barc). 1999. PMID: 10425618 Spanish.

5

Single-strand conformation polymorphism analysis in the FMR1 gene.

Castellví-Bel S, Sánchez A, Badenas C, Mallolas J, Barceló A, Jiménez D, Villa M, Estivill X, Milà M. Castellví-Bel S, et al. Among authors: estivill x. Am J Med Genet. 1999 May 28;84(3):262-5. Am J Med Genet. 1999. PMID: 10331603

6

Rare variants in the promoter of the fragile X syndrome gene (FMR1).

Milà M, Castellví-Bel S, Sánchez A, Barceló A, Badenas C, Mallolas J, Estivill X. Milà M, et al. Among authors: estivill x. Mol Cell Probes. 2000 Apr;14(2):115-9. doi: 10.1006/mcpr.2000.0293. Mol Cell Probes. 2000. PMID: 10799273

7

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

Badenas C, Castellví-Bel S, Volpini V, Jiménez D, Sánchez A, Estivill X, Milà M. Badenas C, et al. Among authors: estivill x. Am J Med Genet. 2001 Feb 1;98(4):343-7. doi: 10.1002/1096-8628(20010201)98:4<343::aid-ajmg1107>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11170079

8

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X. Milà M, et al. Among authors: estivill x. J Med Genet. 1996 Apr;33(4):338-40. doi: 10.1136/jmg.33.4.338. J Med Genet. 1996. PMID: 8730293 Free PMC article.

9

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M. Rodriguez-Revenga L, et al. Among authors: estivill x. Am J Med Genet A. 2007 May 1;143A(9):916-20. doi: 10.1002/ajmg.a.31521. Am J Med Genet A. 2007. PMID: 17431911

10

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez MD, Estivill X. Castellví-Bel S, et al. Among authors: estivill x. Prenat Diagn. 1995 Sep;15(9):801-7. doi: 10.1002/pd.1970150903. Prenat Diagn. 1995. PMID: 8559749

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