Elisa De Franco

Elisa De Franco

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Elisa De Franco

Elisa De Franco

Publications by authors named "Elisa De Franco"

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A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Clin Dysmorphol 2020 Jan;29(1):69-72

Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetic Service, North West Health Care University NHS Trust, Harrow, Middlesex.

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http://dx.doi.org/10.1097/MCD.0000000000000304DOI Listing
January 2020

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Hum Mol Genet 2019 Aug 19. Epub 2019 Aug 19.

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddz200DOI Listing
August 2019

From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes.

Authors:
Elisa De Franco

J Mol Biol 2019 Aug 31. Epub 2019 Aug 31.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK; Institute of Biomedical and Clinical Science, Level 3, RILD Building, Barrack Road, EX2 5DW Exeter, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2019.08.016DOI Listing
August 2019

Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes.

J Pediatr Endocrinol Metab 2019 Jun;32(6):607-613

Genetics of Complex Traits, University of Exeter Medical School, Medical Research - Level 3, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1515/jpem-2018-0434DOI Listing
June 2019

Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report.

Clin Case Rep 2019 Jun 1;7(6):1133-1138. Epub 2019 May 1.

Department of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm Sweden.

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http://dx.doi.org/10.1002/ccr3.2168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552956PMC
June 2019

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.

Can J Diabetes 2019 May 11. Epub 2019 May 11.

The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jcjd.2019.05.002DOI Listing
May 2019

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Pediatr Diabetes 2018 08 27;19(5):898-904. Epub 2018 Mar 27.

Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

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http://dx.doi.org/10.1111/pedi.12669DOI Listing
August 2018

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

J Clin Res Pediatr Endocrinol 2018 06 25;10(2):175-178. Epub 2017 Sep 25.

University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece

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http://dx.doi.org/10.4274/jcrpe.5166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388PMC
June 2018

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.

J Pediatr Endocrinol Metab 2018 Mar;31(3):345-348

Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1515/jpem-2017-0325DOI Listing
March 2018

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

Genes (Basel) 2018 01 3;9(1). Epub 2018 Jan 3.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes9010013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793166PMC
January 2018

An Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):260-264. Epub 2017 Jun 30.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom.

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http://dx.doi.org/10.4274/jcrpe.4624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808PMC
September 2017

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):274-277. Epub 2017 Jun 30.

Federal University of São Paulo, Paulista School of Medicine, Division of Endocrinology, São Paulo, Brazil.

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http://cms.galenos.com.tr/Uploads/Article_1897/JCRPE-9-274.p
Publisher Site
http://dx.doi.org/10.4274/jcrpe.4494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596810PMC
September 2017

Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.

Indian Pediatr 2017 Jun;54(6):467-471

Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi, and *Madras Diabetes Research Foundation, Chennai, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Correspondence to: Prof. Vandana Jain, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, Delhi-110 029, India.

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http://dx.doi.org/10.1007/s13312-017-1049-7DOI Listing
June 2017

The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype.

Genes (Basel) 2017 May 19;8(5). Epub 2017 May 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes8050146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448020PMC
May 2017

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Diagn Pathol 2017 Jan 3;12(1). Epub 2017 Jan 3.

Division of Pediatric Endocrinology Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Decarie, Montreal, H4A 3J1, Quebec, Canada.

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http://dx.doi.org/10.1186/s13000-016-0592-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893PMC
January 2017

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Am J Med Genet A 2016 07 5;170(7):1918-23. Epub 2016 May 5.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37680DOI Listing
July 2016

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.

Acta Diabetol 2016 Apr 30;53(2):337-8. Epub 2015 Jun 30.

Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., 91-738, Lodz, Poland.

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http://link.springer.com/10.1007/s00592-015-0786-0
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http://dx.doi.org/10.1007/s00592-015-0786-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826403PMC
April 2016

Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

Pediatr Clin North Am 2015 Aug 11;62(4):1037-53. Epub 2015 May 11.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2015.04.012DOI Listing
August 2015

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Hum Mol Genet 2014 Dec 11;23(24):6432-40. Epub 2014 Jul 11.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddu360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240195PMC
December 2014

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nat Genet 2011 Dec 11;44(1):20-22. Epub 2011 Dec 11.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1038/ng.1035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962PMC
December 2011