L. Fernández

发表

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

L. Armengol, L. Pérez-Jurado, P. Lapunzina, 2011, Human Genetics.

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

P. Lapunzina, F. Santos-Simarro, A. Chiesa, 2019, Journal of Inborn Errors of Metabolism and Screening.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

P. Lapunzina, J. Nevado, J. Rosell, 2015, American journal of medical genetics. Part A.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2014, BMC Medical Genetics.

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

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2017, Revista espanola de cardiologia.

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

M. Fraga, P. Lapunzina, J. Nevado, 2011, European Journal of Human Genetics.

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

M. Fraga, G. Pita, P. Lapunzina, 2010, Journal of Medical Genetics.

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

P. Lapunzina, J. Nevado, R. Mena, 2015, Clinical genetics.

D. Heine-Suñer, P. Lapunzina, J. Rosell, 2008, American journal of medical genetics. Part A.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

A New Overgrowth Syndrome is due to Mutations in RNF125

J. Dopazo, D. Montaner, E. López-Granados, 2014, Human mutation.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Mietens–Weber syndrome: two new patients and a review

P. Lapunzina, I. L. Pajares, L. Fernández, 2006, Clinical dysmorphology.

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

T. Eggermann, E. Vallespín, M. Begemann, 2012, American journal of medical genetics. Part A.

Genetics of Chromosome 22q11.2 Deletion Syndrome

L. Fernández, 2013 .

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

D. Heine-Suñer, P. Lapunzina, J. Nevado, 2009, BMC Medical Genetics.

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

P. Lapunzina, J. Nevado, R. Martin, 2013, American journal of medical genetics. Part A.

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

L. Armengol, L. Pérez-Jurado, P. Lapunzina, 2011, Human Genetics.

Partial Deletion of EMD Gene in a Patient With Emery-Dreifuss Muscular Dystrophy

S. Pascual-Pascual, L. Fernández, P. Martínez-Montero, 2012 .

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

J Arcas, P. Lapunzina, I. L. Pajares, 2006, Clinical genetics.

CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

J. Wesselink, P. Lapunzina, R. Mena, 2010, American journal of medical genetics. Part A.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

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

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2019, Molecular genetics & genomic medicine.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.

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

P. Lapunzina, I. L. Pajares, D. Arjona, 2005, Clinical genetics.

Euchromatic variant 16p+. Implications in prenatal diagnosis

M. Salido, P. Lapunzina, I. L. Pajares, 2006, Prenatal diagnosis.

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

P. Lapunzina, K. Ibáñez, E. Vallespín, 2020, Clinical genetics.

Direct tandem duplication in chromosome 19q characterized by array CGH.

P. Lapunzina, Olaya Villa, L. Fernández, 2008, European journal of medical genetics.

Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

P. Lapunzina, I. L. Pajares, J. Quero, 2005, American journal of medical genetics. Part A.

Unusual four‐generation chromosome‐22 rearrangement: When “normality” masks abnormality

P. Lapunzina, J. Nevado, A. Villa, 2009, American journal of medical genetics. Part A.

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

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Clinical genetics.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

C. Amiñoso, E. Vallespín, L. Fernández, 2013, Gene.

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

P. Lapunzina, I. L. Pajares, L. Fernández, 2006, American journal of medical genetics. Part A.

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

L. Fernández, W. Abramovits, L. Fernández, 1991, American journal of medical genetics.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

M. Owen, C. Marshall, Zhengdong D. Zhang, 2023, NPJ genomic medicine.