List of works - Daniele De Brasi

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

scientific article published on 01 January 2005

Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital.

scientific article published on 02 September 2009

Case of Myhre syndrome with autism and peculiar skin histological findings.

scientific article published in October 2001

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

scientific article published on 13 September 2013

Holt-Oram syndrome associated with anomalies of the feet

scientific article published on 01 May 2008

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

scientific article published in November 2001

Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement

scientific article published on 01 June 2000

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

scientific article

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

scientific article published on 12 May 2015

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

scientific article

Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.

scientific article

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

scientific article published on 15 July 2015

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

scientific article (publication date: December 1999)

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

scientific article published on 13 August 2008

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

scientific article published in May 2008

Therapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs? ⬇️

scientific article published on October 1, 2010

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.

scientific article

List of works by Daniele De Brasi

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital.

Case of Myhre syndrome with autism and peculiar skin histological findings.

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

Holt-Oram syndrome associated with anomalies of the feet

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Therapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs? ⬇️

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.