Lista de obras - Leslie Domenici Kulikowski

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

artículo científico publicado en 2009

45,X karyotype in an infertile man: how is this possible?

artículo científico publicado en 2014

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

artículo científico publicado en 2018

A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease

article

A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome

artículo científico publicado en 2010

Attention Deficit Hyperactivity Disorder in the Light of the Epigenetic Paradigm

artículo científico publicado en 2015

Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry

artículo científico publicado en 2019

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome

artículo científico publicado en 2006

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

artículo científico publicado en 2014

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.

artículo científico publicado en 2014

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

artículo científico publicado en 2014

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

scientific article published on 07 October 2020

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

artículo científico publicado en 2012

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

artículo científico publicado en 2015

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

scientific article published on 01 November 2010

Cytogenetic instability of dental pulp stem cell lines.

artículo científico publicado en 2011

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

artículo científico publicado en 2010

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

artículo científico publicado en 2023

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

artículo científico publicado en 2012

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

artículo científico publicado en 2015

Deletion 22q11.2: report of a complex meiotic mechanism of origin

scientific article published on 01 August 2007

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

scientific article published on 05 February 2018

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports

artículo científico publicado en 2013

Duplication 9p and their implication to phenotype

artículo científico publicado en 2014

Efficacy of two fluorescence in situ hybridization (FISH) probes for diagnosing malignant pleural effusions ⬇️

artículo científico publicado el 28 de febrero de 2013

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.

artículo científico publicado en 2009

First report of a small supernumerary der(8;14) marker chromosome.

artículo científico publicado en 2013

Gene expression changes associated with trajectories of psychopathology in a longitudinal cohort of children and adolescents

artículo científico publicado en 2020

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

scientific article published on 19 February 2020

Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?

artículo científico publicado en 2021

Gestational Tubal Choriocarcinoma Presenting as a Pregnancy of Unknown Location following Ovarian Induction.

artículo científico publicado en 2018

Global DNA methylation of peripheral blood leukocytes from dogs bearing multicentric non-Hodgkin lymphomas and healthy dogs: A comparative study

scientific article published on 25 March 2019

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

artículo científico publicado en 2017

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

scientific article published on 01 September 2020

Investigation of copy number variation in children with conotruncal heart defects.

artículo científico publicado en 2014

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

scientific article published on 02 April 2019

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

article

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

artículo científico

Position effect modifying gene expression in a patient with ring chromosome 14

artículo científico publicado en 2015

Post-mortem cytogenomic investigations in patients with congenital malformations

artículo científico publicado en 2016

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes

artículo científico publicado en 2008

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

artículo científico publicado en 2015

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0"

scientific article published on 03 October 2019

Ring chromosome 10: report on two patients and review of the literature.

artículo científico

Ring chromosome instability evaluation in six patients with autosomal rings.

artículo científico publicado en 2010

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region

article

Severe brain involvement in 5q spinal muscular atrophy type 0

scientific article published on 24 July 2019

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

artículo científico publicado en 2016

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

artículo científico publicado en 2010

Terminal 18q deletions are stabilized by neotelomeres

artículo científico publicado en 2015

Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival

artículo científico publicado en 2010

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

artículo científico publicado en 2014

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report ⬇️

artículo científico publicado el 7 de septiembre de 2012

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family ⬇️

artículo científico publicado el 10 de agosto de 2012

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

artículo científico publicado en 2015

[I Guidelines of heart failure and heart transplantation in the fetus, in children and adults with congenital cardiopathy, The Brazilian Society of Cardiology]

artículo científico publicado en 2014

Lista de obras de Leslie Domenici Kulikowski

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

45,X karyotype in an infertile man: how is this possible?

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease

A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome

Attention Deficit Hyperactivity Disorder in the Light of the Epigenetic Paradigm

Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

Cytogenetic instability of dental pulp stem cell lines.

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Deletion 22q11.2: report of a complex meiotic mechanism of origin

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports

Duplication 9p and their implication to phenotype

Efficacy of two fluorescence in situ hybridization (FISH) probes for diagnosing malignant pleural effusions ⬇️

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.

First report of a small supernumerary der(8;14) marker chromosome.

Gene expression changes associated with trajectories of psychopathology in a longitudinal cohort of children and adolescents

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?

Gestational Tubal Choriocarcinoma Presenting as a Pregnancy of Unknown Location following Ovarian Induction.

Global DNA methylation of peripheral blood leukocytes from dogs bearing multicentric non-Hodgkin lymphomas and healthy dogs: A comparative study

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

Investigation of copy number variation in children with conotruncal heart defects.

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Position effect modifying gene expression in a patient with ring chromosome 14

Post-mortem cytogenomic investigations in patients with congenital malformations

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0"

Ring chromosome 10: report on two patients and review of the literature.

Ring chromosome instability evaluation in six patients with autosomal rings.

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region

Severe brain involvement in 5q spinal muscular atrophy type 0

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

Terminal 18q deletions are stabilized by neotelomeres

Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report ⬇️

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family ⬇️

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

[I Guidelines of heart failure and heart transplantation in the fetus, in children and adults with congenital cardiopathy, The Brazilian Society of Cardiology]