Antonie D Kline

Antonie D Kline

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Antonie D Kline

Antonie D Kline

Publications by authors named "Antonie D Kline"

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Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Am J Med Genet A 2019 Apr 31;179(4):561-569. Epub 2019 Jan 31.

Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.61055
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http://dx.doi.org/10.1002/ajmg.a.61055DOI Listing
April 2019

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Am J Hum Genet 2018 09 16;103(3):448-455. Epub 2018 Aug 16.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128244PMC
September 2018

Improvement in hearing loss over time in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2016 Aug 13;87:203-7. Epub 2016 Jun 13.

Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Department of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2016.06.032DOI Listing
August 2016

Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson.

Authors:
Antonie D Kline

Am J Med Genet C Semin Med Genet 2016 06 25;172(2):83-5. Epub 2016 Apr 25.

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http://dx.doi.org/10.1002/ajmg.c.31482DOI Listing
June 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Autism traits in children and adolescents with Cornelia de Lange syndrome.

Am J Med Genet A 2014 Jun 9;164A(6):1400-10. Epub 2014 Apr 9.

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36573DOI Listing
June 2014

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Mol Genet Metab 2014 Jan 9;111(1):55-7. Epub 2013 Nov 9.

Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA; University of Minnesota, 12-150 Phillips Wangensteen Building, MMC-295, 516 Delaware Street, SE, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935823PMC
January 2014

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Am J Med Genet A 2012 Oct 10;158A(10):2499-505. Epub 2012 Sep 10.

Department of Pediatrics, Section of Pediatric Cardiology, The Children's Hospital of Colorado, Denver, USA.

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http://dx.doi.org/10.1002/ajmg.a.35582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551981PMC
October 2012

Insomnia in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2012 Jul 13;76(7):972-5. Epub 2012 Apr 13.

Emory University, Department of Otolaryngology - Head and Neck Surgery, 1365 Clifton Road NE, Building A - Suite 2300, Atlanta, GA 30322, United States.

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http://dx.doi.org/10.1016/j.ijporl.2012.03.008DOI Listing
July 2012

Characterization of sleep disturbance in Cornelia de Lange Syndrome.

Int J Pediatr Otorhinolaryngol 2011 Feb 13;75(2):215-8. Epub 2010 Dec 13.

Johns Hopkins, Department of Otolaryngology - Head and Neck Surgery, 601 N. Caroline St, 6th Floor, Baltimore, MD 21287, United States.

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http://dx.doi.org/10.1016/j.ijporl.2010.11.003DOI Listing
February 2011

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.

Nucleic Acids Res 2010 Sep 6;38(17):5657-71. Epub 2010 May 6.

Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/nar/gkq346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943628PMC
September 2010

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

Natural history of aging in Cornelia de Lange syndrome.

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):248-60

Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30137
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http://dx.doi.org/10.1002/ajmg.c.30137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902018PMC
August 2007

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Am J Med Genet A 2007 Jun;143A(12):1287-96

Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA.

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http://dx.doi.org/10.1002/ajmg.a.31757DOI Listing
June 2007

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Am J Hum Genet 2004 Oct 18;75(4):610-23. Epub 2004 Aug 18.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA.

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http://dx.doi.org/10.1086/424698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182048PMC
October 2004