List of works - Maria Luisa Martinez-Fernandez

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

scientific article published on 25 July 2013

A highly specific coding system for structural chromosomal alterations

scientific article published on 12 March 2013

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

scientific article

A small and active ring X chromosome in a female with features of Kabuki syndrome

scientific article published on 01 November 2008

Be careful with familial unbalanced chromosome abnormalities!

scientific article published on 01 August 2008

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

scientific article

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

article

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient

scientific article published on 01 May 2009

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

scientific article

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

scientific article published on 06 November 2019

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

scientific article

Oral-facial-digital syndrome type II: clinical case and differential diagnosis

scientific article published on 20 September 2013

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

scientific article published on 01 November 2007

Subtelomeric deletion of 12p: Description of a third case and review

scientific article published on 01 June 2010

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

scientific article published on 01 May 2007

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

scientific article published in July 2005

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

scientific article published on 30 September 2019

[Miller-Dieker syndrome]

scientific article published on 07 February 2009

List of works by Maria Luisa Martinez-Fernandez

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

A highly specific coding system for structural chromosomal alterations

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

A small and active ring X chromosome in a female with features of Kabuki syndrome

Be careful with familial unbalanced chromosome abnormalities!

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

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

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient

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

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

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

Oral-facial-digital syndrome type II: clinical case and differential diagnosis

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

Subtelomeric deletion of 12p: Description of a third case and review

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

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

[Miller-Dieker syndrome]