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Items: 16

1.
2.

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Gupta A, Sharma Y, Deo K, Vellarikkal S, Jayarajan R, Dixit V, Verma A, Scaria V, Sivasubbu S.

F1000Res. 2015 Jul 31;4:446. doi: 10.12688/f1000research.6779.1. eCollection 2015.

3.

Ovarian Hemangiomas Do Not Harbor EWSR1 Rearrangements: Clinicopathologic Characterization of 10 Cases.

Schoolmeester JK, Greipp PT, Keeney GL, Soslow RA.

Int J Gynecol Pathol. 2015 Sep;34(5):437-44. doi: 10.1097/PGP.0000000000000171.

PMID:
25851709
4.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.

Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P.

Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.

5.

Identification of de novo copy number variants associated with human disorders of sexual development.

Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ.

PLoS One. 2010 Oct 26;5(10):e15392. doi: 10.1371/journal.pone.0015392.

6.

De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia.

Brunetti-Pierri N, Patel A, Brown CW, Rauch RA, Heptulla RA.

Am J Med Genet A. 2009 Nov;149A(11):2554-6. doi: 10.1002/ajmg.a.33041. No abstract available. Erratum in: Am J Med Genet A. 2010 Mar;152A(3):805. Brunetti-Perri, Nicola [corrected to Brunetti-Pierri, Nicola].

PMID:
19839043
7.

Copy number variation and schizophrenia.

St Clair D.

Schizophr Bull. 2009 Jan;35(1):9-12. doi: 10.1093/schbul/sbn147. Epub 2008 Nov 5.

8.

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C.

Hum Genet. 2006 Aug;120(1):77-84. Epub 2006 May 18.

PMID:
16708226
9.

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM.

Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. Epub 2006 Feb 9. Review.

PMID:
16503209
10.

Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.

Sestini R, Putignano AL, Ammannati F, Papi L.

Genet Test. 2005 Spring;9(1):14-9.

PMID:
15857181
12.

Interstitial loss and gain of sequences on chromosome 22 in meningiomas with normal karyotype.

Prowald A, Wemmert S, Biehl C, Storck S, Martin T, Henn W, Ketter R, Meese E, Zang KD, Steudel WI, Urbschat S.

Int J Oncol. 2005 Feb;26(2):385-93.

PMID:
15645123
13.

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL.

Am J Med Genet A. 2004 Jun 1;127A(2):186-90.

PMID:
15108208
14.

Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina.

Moreira EF, Jaworski C, Li A, Rodriguez IR.

J Biol Chem. 2001 May 25;276(21):18570-8. Epub 2001 Jan 26.

15.

Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts.

Seroussi E, Kedra D, Pan HQ, Peyrard M, Schwartz C, Scambler P, Donnai D, Roe BA, Dumanski JP.

Genome Res. 1999 Sep;9(9):803-14.

16.

Partial trisomy 22q12----qter in prenatal diagnosis.

Tolkendorf E, Mehner G, Prager B.

Prenat Diagn. 1991 May;11(5):339-42.

PMID:
1896421

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