Karen E Heath

Karen E Heath

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Karen E Heath

Karen E Heath

Publications by authors named "Karen E Heath"

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Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Am J Med Genet A 2019 Aug 23;179(8):1591-1597. Epub 2019 May 23.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autonóma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61201DOI Listing
August 2019

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.

Sci Rep 2018 09 24;8(1):14292. Epub 2018 Sep 24.

Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.

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http://www.nature.com/articles/s41598-018-32565-1
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http://dx.doi.org/10.1038/s41598-018-32565-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155277PMC
September 2018

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Rev Esp Cardiol (Engl Ed) 2018 Jul 14;71(7):545-552. Epub 2017 Nov 14.

Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.10.013DOI Listing
July 2018

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Genet Med 2018 01 28;20(1):91-97. Epub 2017 Jun 28.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1038/gim.2017.66DOI Listing
January 2018

Multiple SLC26A2 mutations occurring in a three-generational family.

Eur J Med Genet 2018 Jan 10;61(1):24-28. Epub 2017 Oct 10.

Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; Dept. of Paediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.007DOI Listing
January 2018

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Hum Mutat 2017 11 25;38(11):1471-1476. Epub 2017 Jul 25.

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23292DOI Listing
November 2017

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

J Hum Genet 2017 Feb 8;62(2):229-234. Epub 2016 Sep 8.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2016.113DOI Listing
February 2017

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Mol Syndromol 2017 Jan 17;8(1):30-35. Epub 2016 Nov 17.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1159/000452609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260510PMC
January 2017

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

Eur J Med Genet 2016 Aug 6;59(8):363-6. Epub 2016 Jun 6.

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.06.002DOI Listing
August 2016

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Am J Med Genet A 2016 06 17;170(6):1595-9. Epub 2016 Mar 17.

Multidisciplinary Unit for Skeletal dysplasias (UMDE), Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37619DOI Listing
June 2016

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Eur J Intern Med 2016 Apr 11;29:40-5. Epub 2016 Jan 11.

Dept. of Internal Medicine, Hospital Universitario Marqués Valdecilla, IDIVAL, University of Cantabria, RETICEF, Santander, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2015.12.019DOI Listing
April 2016

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

J Clin Endocrinol Metab 2015 Aug 15;100(8):E1133-42. Epub 2015 Jun 15.

Institute of Medical and Molecular Genetics (A.H.-O., A.I.G.-V., F.S.-C., A.B., S.B.-S., A.C.-B., K.E.H.) and Multidisciplinary Skeletal Dysplasia Unit (A.H.-O., A.B., A.C.B.-B., I.G.-C., S.B.-S., K.E.H.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, 28046 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras Unit 753 (A.H.-O., A.B., S.B.-S., A.C.-B., K.E.H.), Instituto de Salud Carlos III, 28029 Madrid, Spain; Department of Pediatric Endocrinology (A.C.B.-B., I.G.-C.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, 28046 Madrid, Spain; Unidade de Endocrinologia Genetica (G.A.V., A.A.J.), Laboratorio de Endocrinologia Celular and Molecular LIM-25, Universidade de São Paulo, 05508-900 São Paulo, Brazil; Department of Endocrinology and Nutrition (J.R.), Hospital Universitario Príncipe de Asturias, Alcalá de Henares, 28805 Madrid, Spain; Department of Pediatric Endocrinology (C.L.), Hospital Marqués de Valdecilla, 39008 Santander, Spain; and Department of Pediatric Endocrinology (G.C.), Hospital Virgen del Puerto, 10600 Plasencia, Cáceres, Spain.

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http://dx.doi.org/10.1210/jc.2015-1612DOI Listing
August 2015

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Am J Med Genet A 2015 Apr 18;167A(4):902-6. Epub 2015 Feb 18.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36811DOI Listing
April 2015

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

PLoS One 2014 8;9(1):e83104. Epub 2014 Jan 8.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain ; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083104PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885427PMC
September 2014

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion.

Eur J Med Genet 2013 Aug 3;56(8):445-51. Epub 2013 Jul 3.

Department of Pediatric Hematology, Kanuni Sultan Suleyman Education and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.006DOI Listing
August 2013

Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier.

Authors:
Karen E Heath

J Clin Pathol 2012 Oct 9;65(10):962. Epub 2012 Jun 9.

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http://dx.doi.org/10.1136/jclinpath-2012-200920DOI Listing
October 2012

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Eur J Hum Genet 2012 Aug 18;20(8). Epub 2012 Apr 18.

CHU Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, Nantes, France.

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http://www.nature.com/articles/ejhg201264
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http://dx.doi.org/10.1038/ejhg.2012.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400739PMC
August 2012

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

BMC Pediatr 2012 Jun 29;12:88. Epub 2012 Jun 29.

Department of Pediatrics, Hospital Universitario Puerta de Hierro-Majadahonda, C/Manuel de Falla 1, Majadahonda, 28222, Madrid, Spain.

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http://dx.doi.org/10.1186/1471-2431-12-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514257PMC
June 2012

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height.

Hum Genet 2012 Mar 29;131(3):471-8. Epub 2011 Sep 29.

Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, Songpa-Gu, Seoul, 138-736, Korea.

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http://dx.doi.org/10.1007/s00439-011-1096-4DOI Listing
March 2012

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Eur J Hum Genet 2012 Jan 9;20(1):125-7. Epub 2011 Nov 9.

Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Spain.

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http://dx.doi.org/10.1038/ejhg.2011.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234524PMC
January 2012

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Am J Med Genet A 2011 Dec 28;155A(12):3050-3. Epub 2011 Oct 28.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.34199DOI Listing
December 2011

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

J Pediatr Endocrinol Metab 2011 ;24(5-6):395-7

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1515/jpem.2011.024DOI Listing
August 2011

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Hum Mol Genet 2011 Apr 24;20(8):1547-59. Epub 2011 Jan 24.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddr032DOI Listing
April 2011

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

Eur J Med Genet 2010 Jul-Aug;53(4):204-7. Epub 2010 Apr 20.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2010.04.003DOI Listing
October 2010

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).

Am J Med Genet A 2007 May;143A(9):933-8

Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31676DOI Listing
May 2007

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Hum Mutat 2006 Oct;27(10):1062

Dept. of Endocrinology, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.9456DOI Listing
October 2006

Genetic basis of proportional short stature.

Adv Exp Med Biol 2005 ;567:341-83

Hospital Infantil Universitario Niño Jesús, Department of Paediatric Endocrinology, Universidad Autónoma de Madrid, Spain.

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http://dx.doi.org/10.1007/0-387-26274-1_14DOI Listing
January 2006