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Results: 1 to 20 of 189

Similar articles for PubMed (Select 18413482)

1.

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A.

Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550.

PMID:
18413482
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4.

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
5.

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z.

Epilepsia. 2008 Jun;49(6):1091-4. doi: 10.1111/j.1528-1167.2008.01550.x. Epub 2008 Feb 20.

PMID:
18294202
6.

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. doi: 10.1016/j.ejmg.2009.02.004. Epub 2009 Feb 21.

PMID:
19236961
7.

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
8.

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.

Am J Med Genet A. 2010 Apr;152A(4):1008-12. doi: 10.1002/ajmg.a.33343.

PMID:
20358617
9.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748
10.

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.

Daoud H, Gruchy N, Constans JM, Moussaoui E, Saumureau S, Bayou N, Amy M, Védrine S, Vu PY, Rötig A, Laumonnier F, Vourc'h P, Andres CR, Leporrier N, Briault S.

Hum Genet. 2009 Jan;124(6):649-58. doi: 10.1007/s00439-008-0588-3. Epub 2008 Nov 16.

PMID:
19011903
11.

Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation.

Bernheim A, Toujani S, Guillaud-Bataille M, Richon C, Waxin H, Dessen P, Berger R.

Cytogenet Genome Res. 2007;119(3-4):185-90. doi: 10.1159/000112059. Epub 2008 Feb 1.

PMID:
18253027
12.

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D.

Eur J Hum Genet. 1997 Mar-Apr;5(2):105-9.

PMID:
9195162
13.

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Bhalla K, Phillips HA, Crawford J, McKenzie OL, Mulley JC, Eyre H, Gardner AE, Kremmidiotis G, Callen DF.

J Hum Genet. 2004;49(6):308-11. Epub 2004 May 18.

PMID:
15148587
14.

De novo complex chromosome rearrangement: a study of two patients.

Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM.

Genet Couns. 2004;15(3):303-10.

PMID:
15517822
15.

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T.

Hum Genet. 2005 Nov;118(2):267-75. Epub 2005 Nov 15. Erratum in: Hum Genet. 2006 Jan;118(5):668.

PMID:
16160854
16.

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation.

Santos CB, Discepoli G, Pigliapoco F, Boy R, Pimentel MM.

Ann Genet. 2003 Oct-Dec;46(4):471-3.

PMID:
14659784
18.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C.

Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. Epub 2006 Dec 8.

PMID:
17223398
19.

Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy.

Valetto A, Bertini V, Bonuccelli A, Veroni F, Simi P, Taddeucci G.

Epilepsy Res. 2009 Sep;86(1):89-93. doi: 10.1016/j.eplepsyres.2009.05.005. Epub 2009 Jun 17.

PMID:
19539447
20.

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A.

Am J Med Genet A. 2003 Mar 15;117A(3):207-11.

PMID:
12599183
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