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References for PMC Articles for PubMed (Select 20358601)


A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A.

PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565.


Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD.

Clin Genet. 2009 May;75(5):429-39. doi: 10.1111/j.1399-0004.2009.01182.x.


Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation.

Delaney AD, Qian H, Friedman JM, Marra MA.

Curr Protoc Hum Genet. 2008 Oct;Chapter 8:Unit 8.13. doi: 10.1002/0471142905.hg0813s59.


Decorin enhances the proliferation and differentiation of myogenic cells through suppressing myostatin activity.

Kishioka Y, Thomas M, Wakamatsu J, Hattori A, Sharma M, Kambadur R, Nishimura T.

J Cell Physiol. 2008 Jun;215(3):856-67. doi: 10.1002/jcp.21371.


Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain.

Haugstetter J, Maurer MA, Blicher T, Pagac M, Wider G, Ellgaard L.

J Biol Chem. 2007 Nov 16;282(46):33859-67. Epub 2007 Sep 18.


Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM.

Eur J Hum Genet. 2007 Sep;15(9):950-8. Epub 2007 Jun 13.


Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.

Ackerman KG, Pober BR.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):105-8. Review. No abstract available.


Single gene disorders associated with congenital diaphragmatic hernia.

Slavotinek AM.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):172-83.


Genetic factors in congenital diaphragmatic hernia.

Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA.

Am J Hum Genet. 2007 May;80(5):825-45. Epub 2007 Apr 4. Review.


Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.


Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B.

Hum Mol Genet. 2007 Feb 15;16(4):424-30. Epub 2007 Jan 8.


Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA.

Eur J Hum Genet. 2006 Sep;14(9):999-1008. Epub 2006 May 31.


Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2.

Maccarana M, Olander B, Malmström J, Tiedemann K, Aebersold R, Lindahl U, Li JP, Malmström A.

J Biol Chem. 2006 Apr 28;281(17):11560-8. Epub 2006 Feb 27.


Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Blaise F, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR.

Am J Med Genet A. 2006 Jan 1;140(1):17-23. Erratum in: Am J Med Genet A. 2006 May 1;140(9):1031. Blaise, F [added].


High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH, Kennedy GC.

Am J Hum Genet. 2005 Nov;77(5):709-26. Epub 2005 Sep 16. Erratum in: Am J Hum Genet. 2006 Mar;78(3):526.


Fog2 is required for normal diaphragm and lung development in mice and humans.

Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR.

PLoS Genet. 2005 Jul;1(1):58-65. Epub 2005 Jun 17.


Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.

Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R.

Nat Methods. 2004 Nov;1(2):109-11.


Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum.

Haugstetter J, Blicher T, Ellgaard L.

J Biol Chem. 2005 Mar 4;280(9):8371-80. Epub 2004 Dec 28.


Molecular karyotyping using an SNP array for genomewide genotyping.

Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P.

J Med Genet. 2004 Dec;41(12):916-22.

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