Lista de obras - Robert Śmigiel - Dominio Público Uruguay

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

artículo científico publicado en 2015

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

artículo científico

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

artículo científico publicado el 1 de julio de 2012

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

artículo científico publicado en 2016

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome

artículo científico publicado en 2020

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

artículo científico publicado en 2016

Bladder agenesis in a male neonate

scientific article published on 01 November 2008

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy

artículo científico publicado en 2020

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

artículo científico publicado en 2019

Chromosome aberrations and gene mutations in patients with esophageal atresia.

artículo científico publicado en 2013

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

artículo científico publicado en 2008

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

artículo científico publicado en 2021

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

artículo científico publicado en 2011

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

artículo científico publicado el 1 de enero de 2012

Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life

scientific article published on 10 April 2018

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

artículo científico publicado en 2004

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

artículo científico publicado en 2006

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

artículo científico publicado en 2019

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

artículo científico publicado en 2018

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

article

Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

artículo científico publicado en 2012

Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

artículo científico publicado en 2012

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

article

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy

artículo científico publicado en 2016

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

scientific article published on 14 September 2016

Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases ⬇️

artículo científico publicado el 1 de diciembre de 2011

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

artículo científico publicado en 2015

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Hypercalciuria in a child with acral peeling skin syndrome: a case report

artículo científico publicado en 2015

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.

artículo científico publicado en 2004

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus

artículo científico publicado en 2016

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

artículo científico publicado en 2018

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

artículo científico publicado en 2007

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

artículo científico publicado en 2015

Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation

artículo científico publicado en 2020

Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

artículo científico publicado en 2020

Migraine and Stroke: What's the Link? What to Do?

artículo científico publicado en 2017

Mowat-Wilson syndrome: growth charts

artículo científico publicado en 2020

Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

artículo científico publicado el 1 de abril de 2011

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

scientific article published on 01 January 2020

Mutation update for the PORCN gene.

scientific article published on 21 June 2011

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

artículo científico publicado en 2016

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

artículo científico publicado en 2018

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

article

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

artículo científico publicado en 2012

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

artículo científico publicado en 2013

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome

artículo científico publicado en 2010

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

artículo científico publicado en 2014

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

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

artículo científico publicado en 2018

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

artículo científico publicado en 2018

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

scientific article published on 24 July 2020

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

article

Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

scientific article published on 01 February 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants

artículo científico publicado en 2020

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

artículo científico publicado el 1 de diciembre de 2010

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

artículo científico publicado en 2015

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

artículo científico publicado en 2020

Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype

article

Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study

scientific article published on 16 September 2020

Somatic mosaicism in esophageal atresia

artículo científico publicado en 2014

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

artículo científico publicado en 2004

Tetany as a frequent cause of an emergency consultations--etiology, symptoms and cure

artículo científico publicado en 2015

The Impact of Congenital Esophageal Atresia on the Family Functioning

artículo científico publicado en 2019

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem

artículo científico publicado en 2007

The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy

artículo científico publicado en 2005

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2019

[Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]

scientific article published on 01 October 2006

[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report]

artículo científico publicado en 2009

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

artículo científico publicado en 2009

[Contemporary opinions on pathogenesis, genetics and clinical picture of laterality disorders - left-right axis development defects]

artículo científico publicado en 2009

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]

artículo científico publicado en 2012

[Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist]

artículo científico publicado en 2011

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]

artículo científico publicado en 2005

[Isolated and syndromic forms of oesophageal atresia - genetic aspects and counselling]

artículo científico publicado en 2009

[Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation]

artículo científico publicado en 2009

[Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience]

artículo científico publicado en 2019

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]

artículo científico publicado en 2014

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis]

scientific article published on 01 December 2007

[The role of genetic and environmental factors in the etiology of esophageal atresia and tracheo-esophageal fistula]

artículo científico publicado en 2014

[The role of ret gene in the pathogenesis of Hirschsprung disease]

scientific article published on 01 July 2004

Lista de obras de Robert Śmigiel

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

Bladder agenesis in a male neonate

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Chromosome aberrations and gene mutations in patients with esophageal atresia.

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases ⬇️

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

Hypercalciuria in a child with acral peeling skin syndrome: a case report

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation

Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

Migraine and Stroke: What's the Link? What to Do?

Mowat-Wilson syndrome: growth charts

Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Mutation update for the PORCN gene.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

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

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype

Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study

Somatic mosaicism in esophageal atresia

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

Tetany as a frequent cause of an emergency consultations--etiology, symptoms and cure

The Impact of Congenital Esophageal Atresia on the Family Functioning

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem

The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

[Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]

[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report]