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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

American journal of human genetics, 2011-08, Vol.89 (2), p.295-301

2011

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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

Frontiers in genetics, 2021-07, Vol.12, p.645595-645595

2021

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The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.175-178

2005

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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Journal of medical genetics, 2007-04, Vol.44 (4), p.250-256

2007

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A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2281-2290

2013

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Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2382-2392

2019

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Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.639-647

2014

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

PLoS genetics, 2011-07, Vol.7 (7), p.e1002173

2011

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2034-2041

2015

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Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.987-997

2006

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.338-345

2014

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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1243-1251

2015

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A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man

Molecular cytogenetics, 2008-04, Vol.1 (1), p.4-4

2008

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A 2.84Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161 (9), p.2281-2290

2013

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Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects

Clinical dysmorphology, 2008-01, Vol.17 (1), p.5

2008

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Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española

Medicina clínica, 2008-06, Vol.131 (3), p.81-88

2008

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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome: e1002173

PLoS genetics, 2011-07, Vol.7 (7)

2011

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Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome

American journal of medical genetics. Part A, 2014-02, Vol.164 (2), p.338-345

2014

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'Ut pictura poesis': lo plástico y lo transitorio en la prosa azoriniana de La voluntad (1902)

Bulletin of Spanish studies (2002), 2013-03, Vol.90 (2), p.195-210

Martínez, María Luisa Fernández

2013

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Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population

Medicina clínica, 2008-06, Vol.131 (3), p.81-88

2008

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La proximidad de los fantasmas "Beatus Ille" y "El jinete polaco" de Antonio Muñoz Molina

Versants (Neuchâtel, Switzerland), 1997, Vol.31, p.77

Fernández Martínez, María Luisa

1997

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ENSAYO SOBRE UNA TEORIA ACTUAL DE LA EMPRESA Y SU COMPORTAMIENTO ECONOMICO Y SOCIAL (I)

Revista española de financiación y contabilidad, 1989, Vol.18 (60), p.771-788

Martínez, María Luisa Fernández-Pirla

1989

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Exploring the Metabolic Differences between Cisplatin- and UV Light-Induced Apoptotic Bodies in HK-2 Cells by an Untargeted Metabolomics Approach

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7237

2023

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La fotografía y la memoria en "El jinete polaco" de Antonio Muñoz Molina

Boletín de la Biblioteca de Menéndez Pelayo, 2008-01, Vol.LXXXIV, p.433-454

Fernández Martínez, María Luisa

2008

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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man

A 2.84Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects

Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome: e1002173

Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome

'Ut pictura poesis': lo plástico y lo transitorio en la prosa azoriniana de La voluntad (1902)

Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population

La proximidad de los fantasmas "Beatus Ille" y "El jinete polaco" de Antonio Muñoz Molina

ENSAYO SOBRE UNA TEORIA ACTUAL DE LA EMPRESA Y SU COMPORTAMIENTO ECONOMICO Y SOCIAL (I)

Exploring the Metabolic Differences between Cisplatin- and UV Light-Induced Apoptotic Bodies in HK-2 Cells by an Untargeted Metabolomics Approach

La fotografía y la memoria en "El jinete polaco" de Antonio Muñoz Molina

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