Daniela del Gaudio

Daniela del Gaudio

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Daniela del Gaudio

Daniela del Gaudio

Publications by authors named "Daniela del Gaudio"

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31Publications

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GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

Diabetes Res Clin Pract 2019 May 4;151:231-236. Epub 2019 May 4.

Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.diabres.2019.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544496PMC
May 2019

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Am J Med Genet A 2017 May 28;173(5):1378-1382. Epub 2017 Mar 28.

Department of Human Genetics, University of Chicago, Chicago, Illinois.

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http://dx.doi.org/10.1002/ajmg.a.38181DOI Listing
May 2017

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Am J Med Genet A 2014 Apr 23;164A(4):1062-8. Epub 2014 Jan 23.

Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://doi.wiley.com/10.1002/ajmg.a.36390
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http://dx.doi.org/10.1002/ajmg.a.36390DOI Listing
April 2014

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.

Per Med 2014 Mar;11(2):155-165

Department of Human Genetics, University of Chicago, 5841 S Maryland MC0077, Chicago, IL 60637, USA.

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http://dx.doi.org/10.2217/pme.13.111DOI Listing
March 2014

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Eur J Med Genet 2013 Nov 27;56(11):609-13. Epub 2013 Sep 27.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.007DOI Listing
November 2013

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

J Clin Neuromuscul Dis 2010 Jun;11(4):203-8

Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1097/CND.0b013e3181c7f18fDOI Listing
June 2010

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Hum Genet 2009 Sep 16;126(3):411-23. Epub 2009 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-009-0679-9DOI Listing
September 2009

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Am J Med Genet A 2008 Nov;146A(21):2804-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32530
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http://dx.doi.org/10.1002/ajmg.a.32530DOI Listing
November 2008