Kim Keppler-Noreuil

Kim Keppler-Noreuil

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Kim Keppler-Noreuil

Kim Keppler-Noreuil

Publications by authors named "Kim Keppler-Noreuil"

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56Publications

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Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 Sep 6. Epub 2019 Sep 6.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31735DOI Listing
September 2019

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1101/mcs.a004036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672027PMC
August 2019

Diagnosis and clinical delineation of mosaic tetrasomy 5p.

Eur J Med Genet 2019 Feb 21. Epub 2019 Feb 21.

833 Chestnut Street, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Thomas Jefferson University Hospital, Philadelphia, PA, U19107, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.006DOI Listing
February 2019

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Am J Med Genet A 2018 12 22;176(12):2677-2684. Epub 2018 Oct 22.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40636DOI Listing
December 2018

Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.

Birth Defects Res 2018 11 19;110(19):1419-1432. Epub 2018 Sep 19.

Congenital Malformations Registry, NYS Department of Health, Albany, New York.

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http://dx.doi.org/10.1002/bdr2.1388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265081PMC
November 2018

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

Genet Med 2018 09 4;20(9):1077-1081. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.228DOI Listing
September 2018

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

J Am Acad Dermatol 2018 04 16;78(4):725-732. Epub 2017 Oct 16.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173254
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http://dx.doi.org/10.1016/j.jaad.2017.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857242PMC
April 2018

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Am J Med Genet A 2017 Nov 28;173(11):2873-2885. Epub 2017 Sep 28.

Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.

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http://dx.doi.org/10.1002/ajmg.a.38469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650529PMC
November 2017

Characterization of thrombosis in patients with Proteus syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.

Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592090PMC
September 2017

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Am J Med Genet A 2017 08 24;173(8):2007-2073. Epub 2017 May 24.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.38229
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http://dx.doi.org/10.1002/ajmg.a.38229DOI Listing
August 2017

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Dermatol Clin 2017 Jan;35(1):51-60

Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07338635163007
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http://dx.doi.org/10.1016/j.det.2016.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130114PMC
January 2017

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

Am J Med Genet A 2016 10 23;170(10):2605-10. Epub 2016 Aug 23.

Medical Genomics and Metabolic Genetics Branch, National Human Genetics Research Branch, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580816PMC
October 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Hum Genome Var 2015 19;2:15045. Epub 2015 Nov 19.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1038/hgv.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546PMC
April 2016

Risk factors for Dandy-Walker malformation: a population-based assessment.

Am J Med Genet A 2015 Sep 1;167A(9):2009-16. Epub 2015 May 1.

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37124DOI Listing
September 2015

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Am J Med Genet A 2013 Dec 5;161A(12):2964-71. Epub 2013 Nov 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36245
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http://dx.doi.org/10.1002/ajmg.a.36245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419571PMC
December 2013

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Hum Mutat 2013 Sep 28;34(9):1242-9. Epub 2013 May 28.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.22350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745514PMC
September 2013

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Am J Med Genet A 2013 Jul 23;161A(7):1523-30. Epub 2013 May 23.

Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1002/ajmg.a.35969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850PMC
July 2013

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

Am J Med Genet A 2013 May 13;161A(5):1105-9. Epub 2013 Mar 13.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.35790DOI Listing
May 2013

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

Am J Med Genet A 2011 Sep 3;155A(9):2224-8. Epub 2011 Aug 3.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/ajmg.a.34120DOI Listing
September 2011

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

BMC Med Genet 2011 Jul 27;12:101. Epub 2011 Jul 27.

Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children's Hospital, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1186/1471-2350-12-101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199749PMC
July 2011

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Am J Med Genet A 2011 May 4;155A(5):1021-32. Epub 2011 Apr 4.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA.

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http://dx.doi.org/10.1002/ajmg.a.33892DOI Listing
May 2011

Binder phenotype: associated findings and etiologic mechanisms.

J Craniofac Surg 2010 Sep;21(5):1339-45

Division of Medical Genetics, University of Iowa Children's Hospital, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1097/SCS.0b013e3181ef2b71DOI Listing
September 2010

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.

Am J Med Genet A 2007 Nov;143A(21):2581-7

Department of Pediatrics/Division of Medical Genetics, University of Iowa Hospital & Clinics, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.31990DOI Listing
November 2007

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.

Am J Med Genet A 2007 Sep;143A(18):2122-8

Division of Medical Genetics, Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.31897DOI Listing
September 2007

Clinical features and management issues in Mowat-Wilson syndrome.

Am J Med Genet A 2006 Dec;140(24):2730-41

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.31530DOI Listing
December 2006

Behavioral management of a long-term survivor with tetrasomy 18p.

Am J Med Genet A 2006 Feb;140(3):276-80

Children's Hospital, Division of Developmental-Behavioral Pediatrics, Department of Pediatrics, The Center for Disabilities and Development, The University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/ajmg.a.31058DOI Listing
February 2006

In vitro fertilization is associated with an increase in major birth defects.

Fertil Steril 2005 Nov;84(5):1308-15

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2005.03.086DOI Listing
November 2005

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

Am J Med Genet A 2005 Aug;136A(4):358-62

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

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http://dx.doi.org/10.1002/ajmg.a.30746DOI Listing
August 2005

Guidelines for case classification for the National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol 2003 Mar;67(3):193-201

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.

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http://dx.doi.org/10.1002/bdra.10012DOI Listing
March 2003

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Dev Med Child Neurol 2002 Jan;44(1):64-7

University of Iowa Hospitals and Clinics, Department of Pediatrics, Iowa City 52232, USA.

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http://dx.doi.org/10.1017/s0012162201001670DOI Listing
January 2002