Publications by authors named "Pablo Lapunzina"

100Publications

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Nov 14;107(5):977-988. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
November 2020

A six-attribute classification of genetic mosaicism.

Genet Med 2020 Nov 14;22(11):1743-1757. Epub 2020 Jul 14.

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1038/s41436-020-0877-3DOI Listing
November 2020

Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.

Mol Genet Genomic Med 2020 08 13;8(8):e1321. Epub 2020 Jun 13.

Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, Spain.

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http://dx.doi.org/10.1002/mgg3.1321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434601PMC
August 2020

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.

Clin Genet 2020 06 25;97(6):857-868. Epub 2020 Mar 25.

Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autonoma, Madrid, Spain.

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http://dx.doi.org/10.1111/cge.13738DOI Listing
June 2020

[New mutations associated with Hirschsprung disease].

An Pediatr (Barc) 2020 Oct 23;93(4):222-227. Epub 2020 Jan 23.

Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.05.019DOI Listing
October 2020

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.

Clin Genet 2020 03 23;97(3):467-476. Epub 2020 Jan 23.

Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario LaPaz-UAM, Paseo de La Castellana, Madrid, Spain.

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http://dx.doi.org/10.1111/cge.13689DOI Listing
March 2020

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.

Appl Clin Genet 2019 30;12:141-150. Epub 2019 Jul 30.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.2147/TACG.S190661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679697PMC
July 2019

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population.

Int J Antimicrob Agents 2019 Oct 4;54(4):463-470. Epub 2019 Jul 4.

Clinical Pharmacology Department, IdiPAZ, La Paz University Hospital School of Medicine, Autonomous University of Madrid, Paseo de la Castellana 261, 28046 Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09248579193017
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http://dx.doi.org/10.1016/j.ijantimicag.2019.06.026DOI Listing
October 2019

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Mol Genet Genomic Med 2019 04 19;7(4):e00568. Epub 2019 Feb 19.

La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/mgg3.568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465731PMC
April 2019

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.

Clin Genet 2019 04 4;95(4):516-519. Epub 2019 Feb 4.

Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1111/cge.13499DOI Listing
April 2019

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clin Genet 2019 06 29;95(6):726-731. Epub 2019 Apr 29.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
June 2019

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

Eur J Med Genet 2018 Jul 22;61(7):393-398. Epub 2018 Feb 22.

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173068
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http://dx.doi.org/10.1016/j.ejmg.2018.02.007DOI Listing
July 2018

Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory.

Crit Rev Clin Lab Sci 2017 Nov - Dec;54(7-8):529-550. Epub 2017 Dec 11.

a Center for Biomedical Network Research on Rare Diseases (CIBERER) , Institute of Health Carlos III , Valencia , Spain.

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http://dx.doi.org/10.1080/10408363.2017.1410520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733278PMC
April 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

P2X receptors up-regulate the cell-surface expression of the neuronal glycine transporter GlyT2.

Neuropharmacology 2017 Oct 19;125:99-116. Epub 2017 Jul 19.

Departamento de Biología Molecular and Centro de Biología Molecular "Severo Ochoa", Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; IdiPAZ-Hospital Universitario La Paz, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2017.07.018DOI Listing
October 2017

[Genetic predisposition to childhood cancer].

An Pediatr (Barc) 2017 Sep 7;87(3):125-127. Epub 2017 Mar 7.

Laboratorio de Oncohematología Pediátrica Molecular, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, España; Servicio de Hemato-Oncología Pediátrica, Hospital Infantil Universitario La Paz, Madrid, España. Electronic address:

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http://dx.doi.org/10.1016/j.anpedi.2017.01.011DOI Listing
September 2017

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

PLoS One 2017 23;12(2):e0172363. Epub 2017 Feb 23.

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172363PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952PMC
August 2017

A new variant in is associated with glycogen storage disease type IXa.

Mol Genet Metab Rep 2017 Mar 12;10:52-55. Epub 2017 Jan 12.

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/10.1016/j.ymgmr.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233919PMC
March 2017

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

Rev Esp Cardiol (Engl Ed) 2016 Nov 21;69(11):1011-1019. Epub 2016 Jul 21.

Red de Investigación Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2016.03.029DOI Listing
November 2016

A view on clinical genetics and genomics in Spain: of challenges and opportunities.

Mol Genet Genomic Med 2016 Jul 18;4(4):376-91. Epub 2016 Jul 18.

Neurometabolic Diseases LaboratoryInstitute of NeuropathologyIDIBELLBarcelonaSpain; Center for Biomedical Research on Rare Diseases CIBERER U759BarcelonaSpain; Catalan Institution of Research and Advanced Studies (ICREA)BarcelonaSpain.

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http://dx.doi.org/10.1002/mgg3.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947857PMC
July 2016

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

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

Clin Endocrinol (Oxf) 2016 10 12;85(4):673-5. Epub 2016 Jul 12.

Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/cen.13126DOI Listing
October 2016

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.

Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

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http://dx.doi.org/10.1002/mgg3.209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568PMC
May 2016

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.

Trends Genet 2016 07 24;32(7):444-455. Epub 2016 May 24.

Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2016.05.001DOI Listing
July 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].

An Pediatr (Barc) 2016 Aug 28;85(2):104-105. Epub 2016 Feb 28.

Genética Clínica, INGEMM, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, España; Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.01.011DOI Listing
August 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

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

Am J Med Genet A 2016 Apr 11;170A(4):986-91. Epub 2016 Jan 11.

Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/ajmg.a.37532DOI Listing
April 2016

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.

PLoS One 2015 28;10(8):e0136812. Epub 2015 Aug 28.

Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136812PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552764PMC
May 2016

CDKN1C mutations: two sides of the same coin.

Trends Mol Med 2014 Nov 25;20(11):614-22. Epub 2014 Sep 25.

Institute of Human Genetics, University Hospital, Technical University Aachen, Aachen, Germany.

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http://dx.doi.org/10.1016/j.molmed.2014.09.001DOI Listing
November 2014

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

Rev Esp Cardiol (Engl Ed) 2013 May 11;66(5):350-6. Epub 2013 Jan 11.

Laboratorio de Genética Molecular, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2012.09.015DOI Listing
May 2013

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.

Genet Mol Biol 2014 Mar;37(1 Suppl):241-9

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983588PMC
http://dx.doi.org/10.1590/s1415-47572014000200010DOI Listing
March 2014

New microdeletion and microduplication syndromes: A comprehensive review.

Genet Mol Biol 2014 Mar;37(1 Suppl):210-9

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain . ; Section of Molecular Endocrinology, Overgrowth Disordes Laboratory, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983590PMC
http://dx.doi.org/10.1590/s1415-47572014000200007DOI Listing
March 2014

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Am J Med Genet A 2014 May 19;164A(5):1143-50. Epub 2014 Mar 19.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36427DOI Listing
May 2014

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Am J Med Genet A 2014 May 29;164A(5):1136-42. Epub 2014 Jan 29.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36409DOI Listing
May 2014

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 2014

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Am J Med Genet A 2013 Aug 24;161A(8):1950-60. Epub 2013 Jun 24.

Section of Functional and Structural Genomics of Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35960DOI Listing
August 2013

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Am J Med Genet A 2013 Jun 23;161A(6):1354-69. Epub 2013 Apr 23.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35938DOI Listing
June 2013