Lista de obras - Donatella Greco - Dominio Público Uruguay

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

artículo científico publicado en 2013

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

artículo científico publicado en 2008

Cutaneous Atrophic Guttate Lesions in a Linear and Reticulate Pattern: A Quiz

artículo científico publicado en 2013

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

artículo científico publicado en 2005

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

artículo científico publicado en 2013

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

artículo científico publicado en 2014

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

article

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

artículo científico publicado en 2011

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Piezogenic pedal papules during Prader-Willi syndrome

scientific article published on 01 January 2005

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome

artículo científico publicado en 2006

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

artículo científico publicado en 1996

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

artículo científico publicado en 2006

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria

artículo científico publicado en 2011

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

artículo científico publicado en 2013

Three new patients with dup(17)(p11.2p11.2) without autism

artículo científico publicado en 2008

Lista de obras de Donatella Greco

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Cutaneous Atrophic Guttate Lesions in a Linear and Reticulate Pattern: A Quiz

Expanding CEP290 mutational spectrum in ciliopathies

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

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

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Piezogenic pedal papules during Prader-Willi syndrome

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Three new patients with dup(17)(p11.2p11.2) without autism