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Items: 1 to 20 of 26

1.

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Borgatti R, Piccinelli P, Passoni D, Dalprà L, Miozzo M, Micheli R, Gagliardi C, Balottin U.

Pediatr Neurol. 2001 Feb;24(2):111-6.

PMID:
11275459
2.

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ.

J Med Genet. 1996 Feb;33(2):107-12. Review.

3.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
4.

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.

Battaglia A.

Brain Dev. 2005 Aug;27(5):365-9. Epub 2005 Apr 22. Review.

PMID:
16023554
5.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Battaglia A.

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. Review.

6.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P.

Am J Med Genet. 2001 Dec 8;105(8):675-85. Review.

PMID:
11803514
7.

Three probands with autistic disorder and isodicentric chromosome 15.

Wolpert CM, Menold MM, Bass MP, Qumsiyeh MB, Donnelly SL, Ravan SA, Vance JM, Gilbert JR, Abramson RK, Wright HH, Cuccaro ML, Pericak-Vance MA.

Am J Med Genet. 2000 Jun 12;96(3):365-72. Review.

PMID:
10898916
8.

Epigenetics of autism spectrum disorders.

Schanen NC.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50. Review.

PMID:
16987877
9.

What is known about autism: genes, brain, and behavior.

Santangelo SL, Tsatsanis K.

Am J Pharmacogenomics. 2005;5(2):71-92. Review.

PMID:
15813671
10.

Autism: an overview of genetic aetiology.

Bayou N, M'rad R, Ahlem B, Béchir Helayem M, Chaabouni H.

Tunis Med. 2008 Jun;86(6):573-8. Review.

PMID:
19216451
11.

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder.

Wassink TH, Piven J, Patil SR.

Psychiatr Genet. 2001 Jun;11(2):57-63. Review.

PMID:
11525418
12.

[Pervasive developmental disorders. Clinical and genetics aspects].

Ruggieri V, Arberas C.

Medicina (B Aires). 2007;67(6 Pt 1):569-85. Review. Spanish.

PMID:
18422083
13.

[Autism, genetics and synaptic function alterations].

Perche O, Laumonnier F, Baala L, Ardourel MY, Menuet A, Robin V, Mortaud S, Montécot-Dubourg C, Richard O, Pichon J, Briault S.

Pathol Biol (Paris). 2010 Oct;58(5):381-6. doi: 10.1016/j.patbio.2009.12.005. Epub 2010 Feb 23. Review. French.

PMID:
20181440
14.
15.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Review.

PMID:
18932124
16.

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529. Review.

PMID:
20683990
17.

Autism and cytogenetic abnormalities: solving autism one chromosome at a time.

Martin CL, Ledbetter DH.

Curr Psychiatry Rep. 2007 Apr;9(2):141-7. Review.

PMID:
17389126
18.

Approach to the genetic evaluation of the child with autism.

Toriello HV.

Pediatr Clin North Am. 2012 Feb;59(1):113-28, xi. doi: 10.1016/j.pcl.2011.10.014. Review.

PMID:
22284797
19.

[Genetic aspects of the clinical diversity of the diseases accompanied by mental retardation].

Lebedev BV, Marincheva GS, Krasnopol'skaia KD.

Zh Nevropatol Psikhiatr Im S S Korsakova. 1977;77(10):1572-5. Review. Russian. No abstract available.

PMID:
337740
20.

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.

Specchio N, Carotenuto A, Trivisano M, Cappelletti S, Digilio C, Capolino R, Di Capua M, Fusco L, Vigevano F.

Am J Med Genet A. 2011 Apr;155A(4):911-4. doi: 10.1002/ajmg.a.33899. Epub 2011 Mar 15. Review. No abstract available.

PMID:
21595005

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