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Items: 1 to 20 of 82

1.

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Borg I, Freude K, Kübart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM.

Eur J Hum Genet. 2005 Aug;13(8):921-7.

2.

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H, Chelly J, Bienvenu T.

Pediatr Neurol. 2007 Oct;37(4):270-4.

PMID:
17903671
3.

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O.

Am J Hum Genet. 2001 Aug;69(2):261-8. Epub 2001 Jun 18.

4.

NTNG1 mutations are a rare cause of Rett syndrome.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ.

Am J Med Genet A. 2006 Apr 1;140(7):691-4.

5.

Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.

Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ.

Blood. 1998 Mar 15;91(6):1873-81.

6.

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B.

J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16.

PMID:
21160487
7.

A family-based association study and gene expression analyses of netrin-G1 and -G2 genes in schizophrenia.

Aoki-Suzuki M, Yamada K, Meerabux J, Iwayama-Shigeno Y, Ohba H, Iwamoto K, Takao H, Toyota T, Suto Y, Nakatani N, Dean B, Nishimura S, Seki K, Kato T, Itohara S, Nishikawa T, Yoshikawa T.

Biol Psychiatry. 2005 Feb 15;57(4):382-93.

PMID:
15705354
8.

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.

Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW.

Psychiatr Genet. 2008 Jun;18(3):101-9. doi: 10.1097/YPG.0b013e3282f97df7.

PMID:
18496206
9.
10.

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J.

Neurobiol Dis. 2001 Oct;8(5):847-65.

PMID:
11592853
11.

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY.

Am J Med Genet. 1993 Nov 15;47(7):1124-34.

PMID:
8291533
12.

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.

Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18.

PMID:
19379847
13.

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Tentler D, Brandberg G, Betancur C, Gillberg C, Annerén G, Orsmark C, Green ED, Carlsson B, Dahl N.

Am J Med Genet. 2001 Dec 8;105(8):729-36.

PMID:
11803521
14.

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K.

Am J Hum Genet. 2001 Apr;68(4):848-58. Epub 2001 Mar 9.

16.

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.

Clin Genet. 2006 Apr;69(4):319-26.

PMID:
16630165
17.

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.

Kehrer-Sawatzki H, Häussler J, Krone W, Bode H, Jenne DE, Mehnert KU, Tümmers U, Assum G.

Hum Genet. 1997 Feb;99(2):237-47.

PMID:
9048928
18.

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM.

Hum Genet. 2005 Oct;117(6):536-44. Epub 2005 Aug 17.

PMID:
16133170
19.

[Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].

Takahashi S.

No To Hattatsu. 2014 Mar;46(2):117-20. Review. Japanese. No abstract available.

PMID:
24738188
20.

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.

Kim SJ, Cook EH Jr.

Hum Mutat. 2000 Apr;15(4):382-3.

PMID:
10737989

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