Aledo R - Search Results

1

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A. Demczuk S, et al. Among authors: aledo r. Hum Mol Genet. 1995 Apr;4(4):551-8. doi: 10.1093/hmg/4.4.551. Hum Mol Genet. 1995. PMID: 7633403

2

Jumping translocation of chromosome 14 in a skin squamous cell carcinoma from a xeroderma pigmentosum patient.

Aledo R, Aurias A, Chrétien B, Dutrillaux B. Aledo R, et al. Cancer Genet Cytogenet. 1988 Jul 1;33(1):29-33. doi: 10.1016/0165-4608(88)90046-5. Cancer Genet Cytogenet. 1988. PMID: 3164238

3

Jumping end-to-end dicentrics in a case of squamous cell carcinoma from a patient with xeroderma pigmentosum.

Aledo R, Aurias A, Avril MF, Dutrillaux B. Aledo R, et al. Cancer Genet Cytogenet. 1989 Jul 1;40(1):95-103. doi: 10.1016/0165-4608(89)90150-7. Cancer Genet Cytogenet. 1989. PMID: 2758404

4

Increase of sister chromatid exchanges in excision repair deficient xeroderma pigmentosum.

Aledo R, Renault G, Prieur M, Avril MF, Chrétien B, Dutrillaux B, Aurias A. Aledo R, et al. Hum Genet. 1989 Feb;81(3):221-5. doi: 10.1007/BF00278992. Hum Genet. 1989. PMID: 2921029

5

Cytogenetic study on eleven cutaneous neoplasms and two pre-tumoral lesions from Xeroderma pigmentosum patients.

Aledo R, Dutrillaux B, Lombard M, Aurias A. Aledo R, et al. Int J Cancer. 1989 Jul 15;44(1):79-83. doi: 10.1002/ijc.2910440115. Int J Cancer. 1989. PMID: 2744901

6

Spontaneous chromosomal anomalies in lymphocytes from xeroderma pigmentosum. A study of ten patients.

Aledo R, Avril MF, Dutrillaux B, Aurias A. Aledo R, et al. Ann Genet. 1988;31(4):211-5. Ann Genet. 1988. PMID: 3265304

7

Isoacentric and isocentric chromosomes originating after deletions of human chromosomes.

Dutrillaux B, Al Achkar W, Aledo R, Aurias A, Couturier J, Dutrillaux AM, Flüry-Herard A, Gerbault-Seureau M, Hoffschir F, Lamoliatte E, et al. Dutrillaux B, et al. Among authors: aledo r. Hum Genet. 1987 Jul;76(3):244-7. doi: 10.1007/BF00283616. Hum Genet. 1987. PMID: 3596598

8

Genetic basis of mitochondrial HMG-CoA synthase deficiency.

Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731

9

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lázaro C. Serra E, et al. Among authors: aledo r. Hum Mol Genet. 2000 Dec 12;9(20):3055-64. doi: 10.1093/hmg/9.20.3055. Hum Mol Genet. 2000. PMID: 11115850

10

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

Mir C, Lopez-Viñas E, Aledo R, Puisac B, Rizzo C, Dionisi-Vici C, Deodato F, Pié J, Gomez-Puertas P, Hegardt FG, Casals N. Mir C, et al. Among authors: aledo r. J Inherit Metab Dis. 2006 Feb;29(1):64-70. doi: 10.1007/s10545-006-0138-x. J Inherit Metab Dis. 2006. PMID: 16601870

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