Maria Palomares

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 12 publications

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Journal: Clinical genetics

Published: September 13, 2024

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Journal: American journal of human genetics

Published: June 07, 2023

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.

Journal: Molecular biology reports

Published: February 03, 2020

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.

Journal: European journal of human genetics : EJHG

Published: September 07, 2018

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 31, 2017

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Journal: PloS one

Published: October 04, 2016

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Journal: American journal of medical genetics. Part A

Published: June 21, 2016

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

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

Journal: American journal of medical genetics. Part A

Published: June 16, 2014

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

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

Journal: BMC medical genetics

Published: December 20, 2013

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

Journal: Gene

Published: January 16, 2013

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

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

Journal: American journal of medical genetics. Part A

Published: April 18, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026