List of works - Goran Cuturilo

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

scientific article published on 22 July 2011

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

scientific article published on 01 January 2021

A rare association of interrupted aortic arch type C and microdeletion 22q11.2.

scientific article published on 27 November 2007

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

scientific article published on 23 May 2019

Aplastic anemia and Turner syndrome

scientific article published on 01 January 2008

Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire

scientific article published on 4 August 2015

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability

scientific article published on 17 October 2019

Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.

scientific article

Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.

scientific article published on 10 September 2014

Epilepsy in a child with Wolf-Hirschhorn syndrome ⬇️

scientific article published on November 1, 2011

Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.

scientific article published in September 2016

Inhaled nitric oxide therapy for acute respiratory distress syndrome in children

scientific article published on 01 July 2012

Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity

scientific article published in June 2008

Mowat-Wilson syndrome: growth charts

scientific article published on 15 June 2020

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings

scientific article published on 21 December 2019

PITX2 deficiency and associated human disease: insights from the zebrafish model

scientific article published in March 2018

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

scientific article

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

scientific article published on 4 January 2018

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome

scientific article published on March 2008

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

scientific article published on 10 December 2020

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities

scientific article published in March 2015

The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome

scientific article published on 22 September 2017

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

scientific article published on 20 October 2020

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

scientific article published on 22 December 2017

The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2.

scientific article

Wiskott-Aldrich syndrome with macrothrombocytopenia

scientific article

[Mowat-Wilson syndrome--a case report]

scientific article published on 01 July 2009

List of works by Goran Cuturilo

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

A rare association of interrupted aortic arch type C and microdeletion 22q11.2.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Aplastic anemia and Turner syndrome

Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability

Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.

Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.

Epilepsy in a child with Wolf-Hirschhorn syndrome ⬇️

Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.

Inhaled nitric oxide therapy for acute respiratory distress syndrome in children

Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity

Mowat-Wilson syndrome: growth charts

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings

PITX2 deficiency and associated human disease: insights from the zebrafish model

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

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

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities

The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2.

Wiskott-Aldrich syndrome with macrothrombocytopenia

[Mowat-Wilson syndrome--a case report]