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Items: 17

1.

Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available.

2.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.

PMID:
24993872
3.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T.

J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.

4.

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M.

J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2.

PMID:
23815237
5.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ.

Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):345.

6.

Lenz Microphthalmia Syndrome.

Ng D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Jun 04 [updated 2014 Oct 02].

7.

Composition and biological significance of the human Nalpha-terminal acetyltransferases.

Starheim KK, Gromyko D, Velde R, Varhaug JE, Arnesen T.

BMC Proc. 2009 Aug 4;3 Suppl 6:S3. doi: 10.1186/1753-6561-3-S6-S3.

8.

Protein N-terminal acetylation: NAT 2007-2008 Symposia.

Arnesen T.

BMC Proc. 2009 Aug 4;3 Suppl 6:S1. doi: 10.1186/1753-6561-3-S6-S1.

9.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G.

Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15.

10.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.

Eur J Hum Genet. 2007 Jan;15(1):29-34. Epub 2006 Oct 11.

11.

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM.

Am J Med Genet A. 2005 Jul 30;136(3):275-7. Review. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):54.

PMID:
15957158
12.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.

Eur J Hum Genet. 2005 May;13(5):563-9.

13.

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG.

Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7.

PMID:
15004558
14.

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Ng D, Hadley DW, Tifft CJ, Biesecker LG.

Am J Med Genet. 2002 Jul 15;110(4):308-14.

PMID:
12116202
15.

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.

Am J Med Genet. 2001 Jan 1;98(1):92-100. Review.

PMID:
11426460
16.

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.

Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ.

Am J Med Genet. 2001 Jun 15;101(2):114-9.

PMID:
11391653
17.

X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28.

Graham CA, Redmond RM, Nevin NC.

Ophthalmic Paediatr Genet. 1991 Mar;12(1):43-8.

PMID:
1679229
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