Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, R D; Horsthemke, B.

Nat Genet ; 9(4): 395-400, 1995 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-7795645

2.

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.

Dittrich, B; Buiting, K; Korn, B; Rickard, S; Buxton, J; Saitoh, S; Nicholls, R D; Poustka, A; Winterpacht, A; Zabel, B; Horsthemke, B.

Nat Genet ; 14(2): 163-70, 1996 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-8841186

3.

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Nicholls, R D.

Curr Opin Genet Dev ; 3(3): 445-56, 1993 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-8353420

4.

Incriminating gene suspects, Prader-Willi style.

Nicholls, R D.

Nat Genet ; 23(2): 132-4, 1999 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-10508501

5.

Imprinting in Prader-Willi and Angelman syndromes.

Nicholls, R D; Saitoh, S; Horsthemke, B.

Trends Genet ; 14(5): 194-200, 1998 May.

Artículo en Inglés | MEDLINE | ID: mdl-9613204

6.

Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive.

Stefan, M; Ji, H; Simmons, R A; Cummings, D E; Ahima, R S; Friedman, M I; Nicholls, R D.

Endocrinology ; 146(10): 4377-85, 2005 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-16002520

7.

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Locke, D P; Segraves, R; Nicholls, R D; Schwartz, S; Pinkel, D; Albertson, D G; Eichler, E E.

J Med Genet ; 41(3): 175-82, 2004 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-14985376

8.

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie, A C; Whitney, M M; Amidon, D; Dong, H J; Chen, P; Theriaque, D; Hutson, A; Nicholls, R D; Zori, R T; Williams, C A; Driscoll, D J.

J Med Genet ; 38(12): 834-45, 2001 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-11748306

9.

The human TYRO3 gene and pseudogene are located in chromosome 15q14-q25.

Polvi, A; Armstrong, E; Lai, C; Lemke, G; Huebner, K; Spritz, R A; Guida, L C; Nicholls, R D; Alitalo, K.

Gene ; 134(2): 289-93, 1993 Dec 08.

Artículo en Inglés | MEDLINE | ID: mdl-8262388

10.

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.

Nicholls, R D.

Am J Med Genet ; 46(1): 16-25, 1993 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-8388169

11.

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.

Cassidy, S B; Forsythe, M; Heeger, S; Nicholls, R D; Schork, N; Benn, P; Schwartz, S.

Am J Med Genet ; 68(4): 433-40, 1997 Feb 11.

Artículo en Inglés | MEDLINE | ID: mdl-9021017

12.

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.

Mowery-Rushton, P A; Driscoll, D J; Nicholls, R D; Locker, J; Surti, U.

Am J Med Genet ; 61(2): 140-6, 1996 Jan 11.

Artículo en Inglés | MEDLINE | ID: mdl-8669440

13.

Pericentric inversion of chromosome 16 in a large kindred: spectrum of morbidity and mortality in offspring.

Bianchi, D W; Nicholls, R D; Russell, K A; Miller, W A; Ellin, M; Lage, J M.

Am J Med Genet ; 43(5): 791-5, 1992 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-1642263

14.

Unexpected familial recurrence in Angelman syndrome.

Connerton-Moyer, K J; Nicholls, R D; Schwartz, S; Driscoll, D J; Hendrickson, J E; Williams, C A; Pauli, R M.

Am J Med Genet ; 70(3): 253-60, 1997 Jun 13.

Artículo en Inglés | MEDLINE | ID: mdl-9188662

15.

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Spritz, R A; Bailin, T; Nicholls, R D; Lee, S T; Park, S K; Mascari, M J; Butler, M G.

Am J Med Genet ; 71(1): 57-62, 1997 Jul 11.

Artículo en Inglés | MEDLINE | ID: mdl-9215770

16.

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

Tantravahi, U; Nicholls, R D; Stroh, H; Ringer, S; Neve, R L; Kaplan, L; Wharton, R; Wurster-Hill, D; Graham, J M; Cantú, E S.

Am J Med Genet ; 33(1): 78-87, 1989 May.

Artículo en Inglés | MEDLINE | ID: mdl-2750788

17.

Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure.

Leonard, C M; Williams, C A; Nicholls, R D; Agee, O F; Voeller, K K; Honeyman, J C; Staab, E V.

Am J Med Genet ; 46(1): 26-33, 1993 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-8494031

18.

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Clayton-Smith, J; Driscoll, D J; Waters, M F; Webb, T; Andrews, T; Malcolm, S; Pembrey, M E; Nicholls, R D.

Am J Med Genet ; 47(5): 683-6, 1993 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-8266996

19.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Knoll, J H; Nicholls, R D; Magenis, R E; Graham, J M; Lalande, M; Latt, S A.

Am J Med Genet ; 32(2): 285-90, 1989 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-2564739

20.

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Nicholls, R D; Knoll, J H; Glatt, K; Hersh, J H; Brewster, T D; Graham, J M; Wurster-Hill, D; Wharton, R; Latt, S A.

Am J Med Genet ; 33(1): 66-77, 1989 May.

Artículo en Inglés | MEDLINE | ID: mdl-2568752

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Incriminating gene suspects, Prader-Willi style.

Imprinting in Prader-Willi and Angelman syndromes.

Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive.

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

The human TYRO3 gene and pseudogene are located in chromosome 15q14-q25.

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.

Pericentric inversion of chromosome 16 in a large kindred: spectrum of morbidity and mortality in offspring.

Unexpected familial recurrence in Angelman syndrome.

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure.

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.