Publications by authors named "Karen E Heath"

67Publications

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Clin Genet 2020 Nov 2. Epub 2020 Nov 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13876DOI Listing
November 2020

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Am J Med Genet A 2020 11 28;182(11):2715-2721. Epub 2020 Aug 28.

Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61817DOI Listing
November 2020

Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.

Eur J Obstet Gynecol Reprod Biol 2020 Jul 19;250:209-215. Epub 2020 May 19.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario La Paz, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2020.05.009DOI Listing
July 2020

Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.

Transl Oncol 2020 Jul 15;13(7):100778. Epub 2020 May 15.

Biomedical Research Networking Center on Oncology-CIBERONC, ISCIII, Av. Monforte de Lemos 5, 28029, Madrid, Spain; Molecular Oncology & Pathology Lab, Institute of Medical and Molecular Genetics-INGEMM, Hospital Universitario La Paz-IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tranon.2020.100778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229291PMC
July 2020

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.

Am J Med Genet A 2020 04 7;182(4):628-631. Epub 2020 Jan 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61480DOI Listing
April 2020

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.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-018-32565-1
Publisher Site
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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