Maria J Guillen Sacoto

Maria J Guillen Sacoto

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Maria J Guillen Sacoto

Maria J Guillen Sacoto

Publications by authors named "Maria J Guillen Sacoto"

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21Publications

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Muenke syndrome: An international multicenter natural history study.

Am J Med Genet A 2016 Apr 6;170A(4):918-29. Epub 2016 Jan 6.

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

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http://dx.doi.org/10.1002/ajmg.a.37528DOI Listing
April 2016

Genetics and genomic medicine in Ecuador.

Mol Genet Genomic Med 2016 Jan 21;4(1):9-17. Epub 2015 Dec 21.

Instituto de Investigaciones Biomédicas Universidad de las Américas Quito Ecuador.

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http://dx.doi.org/10.1002/mgg3.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707029PMC
January 2016

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Mol Genet Metab Rep 2015 Jun 13;3:47-54. Epub 2015 Apr 13.

Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750614PMC
June 2015