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Assessment of CFTR, SPINK1 and PRSS1 mutations, smoking and alcohol abuse in adult chronic pancreatitis patients from Barcelona

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2017-09, Vol.17 (5), p.S18-S18

2017

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VP16.17: First trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.168-168

2021

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VP13.12: Recurrent non‐immune hydrops fetalis

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.151-151

2021

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Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Ultrasound in obstetrics & gynecology, 2020-05, Vol.55 (5), p.645-651

2020

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POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

British journal of dermatology (1951), 2019-07, Vol.181 (1), p.105-113

2019

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Synchronous primary cutaneous melanomas: a descriptive study of their clinical features, histology, genetic background of the patients and clinical outcomes

Journal of the European Academy of Dermatology and Venereology, 2022-12, Vol.36 (12), p.2364-2372

2022

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EP04.13: Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF‐PCR

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.252-252

2019

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High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

Journal of the European Academy of Dermatology and Venereology, 2023-12, Vol.37 (12), p.2498-2508

2023

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Benefits of oral Polypodium Leucotomos extract in MM high-risk patients

Journal of the European Academy of Dermatology and Venereology, 2013-09, Vol.27 (9), p.1095-1100

2013

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Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

British journal of dermatology (1951), 2017-12, Vol.177 (6), p.e333-e335

2017

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Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype

Journal of the European Academy of Dermatology and Venereology, 2021-02, Vol.35 (2), p.403-410

2021

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OC06.07: Maternal plasma genome‐wide cell‐free DNA testing can detect fetal aneuploidy in pregnancy loss and can be used to guide further work‐up in recurrent losses

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.15-16

2019

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Late‐onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

British journal of dermatology (1951), 2016-12, Vol.175 (6), p.1346-1350

2016

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Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report

British journal of dermatology (1951), 2018-08, Vol.179 (2), p.486-490

2018

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20 years experience with newborn screening for cystic fibrosis in Catalonia

Clinica chimica acta, 2019-06, Vol.493, p.S597-S598

2019

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Mutational status of naevus-associated melanomas

British journal of dermatology (1951), 2015-09, Vol.173 (3), p.671-680

2015

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在一组西班牙黑色素瘤家族中,与黑色素瘤易感性有关的是 POT1 生殖系突变而非 TERT 启动子突变

British journal of dermatology (1951), 2019-07, Vol.181 (1), p.e20-e20

2019

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POT1 and TERT promoter molecular screening in Spanish melanoma families

British journal of dermatology (1951), 2019-07, Vol.181 (1), p.e7-e7

2019

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OC06.02: A new molecular work‐up for early pregnancy losses based on QF‐PCR and SNP‐array in chorionic villi is more accurate than karyotyping

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.14-14

2019

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OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.13-14

2019

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Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

Journal of the European Academy of Dermatology and Venereology, 2017-04, Vol.31 (4), p.643-649

2017

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Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF

British journal of dermatology (1951), 2016-11, Vol.175 (5), p.1030-1037

2016

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Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma

British journal of dermatology (1951), 2014-10, Vol.171 (4), p.754-759

2014

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Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population

British journal of dermatology (1951), 2013-10, Vol.169 (4), p.804-811

2013

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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

British journal of dermatology (1951), 2018-01, Vol.178 (1), p.198-206

2018

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Assessment of CFTR, SPINK1 and PRSS1 mutations, smoking and alcohol abuse in adult chronic pancreatitis patients from Barcelona

VP16.17: First trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound

VP13.12: Recurrent non‐immune hydrops fetalis

Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency?

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Synchronous primary cutaneous melanomas: a descriptive study of their clinical features, histology, genetic background of the patients and clinical outcomes

EP04.13: Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF‐PCR

High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

Benefits of oral Polypodium Leucotomos extract in MM high-risk patients

Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype

OC06.07: Maternal plasma genome‐wide cell‐free DNA testing can detect fetal aneuploidy in pregnancy loss and can be used to guide further work‐up in recurrent losses

Late‐onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report

20 years experience with newborn screening for cystic fibrosis in Catalonia

Mutational status of naevus-associated melanomas

在一组西班牙黑色素瘤家族中,与黑色素瘤易感性有关的是 POT1 生殖系突变而非 TERT 启动子突变

POT1 and TERT promoter molecular screening in Spanish melanoma families

OC06.02: A new molecular work‐up for early pregnancy losses based on QF‐PCR and SNP‐array in chorionic villi is more accurate than karyotyping

OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis

Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF

Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

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