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An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension

Clinical genetics, 2017-03, Vol.91 (3), p.453-457

2017

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Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

Translational psychiatry, 2023-06, Vol.13 (1), p.189-189, Article 189

2023

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mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

Clinical genetics, 2018-04, Vol.93 (4), p.762-775

2018

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Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.51-51, Article 51

2020

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Abnormal bone turnover in individuals with low serum alkaline phosphatase

Osteoporosis international, 2018-09, Vol.29 (9), p.2147-2150

2018

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A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

Clinical genetics, 2015-12, Vol.88 (6), p.579-583

2015

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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Clinical genetics, 2017-09, Vol.92 (3), p.350-351

2017

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Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E404-E412

2011

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Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

American journal of human genetics, 2005-05, Vol.76 (5), p.729-749

2005

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The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia

Pediatric hematology and oncology, 2016-11, Vol.33 (7-8), p.415-422

2016

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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Scientific reports, 2013-02, Vol.3 (1), p.1346-1346, Article 1346

2013

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EP09.08: Sonographic findings in fetuses affected by microdeletion 17q21.31

Ultrasound in obstetrics & gynecology, 2016-09, Vol.48 (S1), p.300-300

2016

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Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE

Semergen, medicina de familia, 2022-11, Vol.48 (8), p.101840-101840

2022

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CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients

Placenta (Eastbourne), 2009-06, Vol.30 (6), p.551-554

2009

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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Journal of medical genetics, 2011-03, Vol.48 (3), p.212-216

2011

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Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.53-71

Lapunzina, Pablo

2005

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Implementing Pharmacogenetics: Pharmarray® And Pharmacogenetic Consultation

Clinical therapeutics, 2015-08, Vol.37 (8), p.e129-e129

2015

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

Clinical genetics, 2014-04, Vol.85 (4), p.401-402

2014

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Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis

Clinical and experimental dermatology, 2014-06, Vol.39 (4), p.557-559

2014

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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

American journal of medical genetics, 2004-09, Vol.130A (1), p.45-51

2004

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Clinical phenotype of a patient with FOXP1 deletion

Anales de pediatría (Barcelona, Spain : 2003), 2015-04, Vol.82 (4), p.280

2015

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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Human mutation, 2010-05, Vol.31 (5), p.E1332-E1347

2010

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The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Biology of the cell, 2011-07, Vol.103 (7), p.303-317

2011

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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical genetics, 2005-10, Vol.68 (4), p.373-378

2005

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An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension

Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Abnormal bone turnover in individuals with low serum alkaline phosphatase

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

EP09.08: Sonographic findings in fetuses affected by microdeletion 17q21.31

Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE

CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Implementing Pharmacogenetics: Pharmarray® And Pharmacogenetic Consultation

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis

Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

Clinical phenotype of a patient with FOXP1 deletion

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

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