Publications by authors named "Robert Smigiel"

92Publications

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

Eur Child Adolesc Psychiatry 2020 Jun 3. Epub 2020 Jun 3.

Department of Genetics, Wroclaw Medical University, 1 Marcinkowski Street, 50-368, Wroclaw, Poland.

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June 2020

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

Int J Pediatr Otorhinolaryngol 2020 Jul 13;134:110038. Epub 2020 Apr 13.

Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland.

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July 2020

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

Neuropsychiatr Dis Treat 2020 14;16:457-463. Epub 2020 Feb 14.

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

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February 2020

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy.

Brain Sci 2020 Feb 17;10(2). Epub 2020 Feb 17.

Department of Paediatrics and Rare Disorders, Wroclaw Medical University, 50-367 Wroclaw, Poland.

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February 2020

The Impact of Congenital Esophageal Atresia on the Family Functioning.

J Pediatr Nurs 2020 Jan - Feb;50:e85-e90. Epub 2019 Apr 23.

Department of Paediatrics Surgery and Urology, Wroclaw Medical University, Wrocław, Poland. Electronic address:

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November 2020

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

Epigenomics 2019 05 15;11(7):767-785. Epub 2019 Mar 15.

Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.

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May 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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February 2019

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

Eur J Pediatr Surg 2019 Jun 10;29(3):266-270. Epub 2018 Apr 10.

Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland.

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June 2019

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

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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September 2018

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

Curr Neurol Neurosci Rep 2017 03;17(3):22

Department of Pediatric Propedeutics and Rare Diseases, Wroclaw Medical University, Wroclaw, Poland.

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March 2017

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

J Appl Genet 2017 Feb 14;58(1):93-98. Epub 2016 Sep 14.

Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.

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February 2017

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

Pediatr Endocrinol Diabetes Metab 2016 Feb;21(2):89-92

Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University.

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February 2016

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.

J Assist Reprod Genet 2016 Feb 4;33(2):189-97. Epub 2015 Dec 4.

Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland.

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February 2016

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

Acta Dermatovenerol Croat 2015 ;23(1):59-62

Daiva Gorczyca, MD, 3rd Department and Clinic of Paediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University , ul. Koszarowa 5, 51-149, Wroclaw, Poland;

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December 2016

Novel cytogenetic and molecular techniques in the diagnosis of congenital anomalies in newborns.

Dev Period Med 2015 Oct-Dec;19(4):432-40

Zakład Pediatrii Społecznej UMED we Wrocławiu, ul. Bartla 5, Wrocław, tel. (71)-784-13-26, fax (71) 784-00-63, e-mail:

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May 2016

Somatic mosaicism in esophageal atresia.

Am J Gastroenterol 2014 Dec;109(12):1954-6

Department of Social Paediatrics, Wroclaw Medical University, Wroclaw, Poland.

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December 2014

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

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

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November 2014

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

Birth Defects Res A Clin Mol Teratol 2014 Apr 7;100(4):314-8. Epub 2014 Apr 7.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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April 2014

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

Postepy Hig Med Dosw (Online) 2014 Mar 7;68:238-46. Epub 2014 Mar 7.

Katedra i Zakład Genetyki, Uniwersytet Medyczny im. Piastów Śląskich we Wrocławiu.

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March 2014

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

Clin Dysmorphol 2013 Oct;22(4):146-8

aDepartment of Genetics, Wroclaw Medical University, Wroclaw, Poland bDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

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October 2013

Chromosome aberrations and gene mutations in patients with esophageal atresia.

J Pediatr Gastroenterol Nutr 2013 Dec;57(6):688-93

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

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December 2013

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

Med Wieku Rozwoj 2012 Apr-Jun;16(2):138-43

Katedra i Zakład Genetyki, Akademia Medyczna, ul. Marcinkowskiego 1, 50-368 Wrocław, Poland.

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April 2013

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

J Appl Genet 2012 Aug 14;53(3):279-82. Epub 2012 Mar 14.

Department of Genetics, Wrocław University of Environmental and Life Sciences, ul. Kożuchowska 7, 51-631 Wrocław, Poland.

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August 2012

Mutation update for the PORCN gene.

Hum Mutat 2011 Jul 21;32(7):723-8. Epub 2011 Jun 21.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

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July 2011

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

Ginekol Pol 2010 Dec;81(12):935-9

Department for Fetal Congenital Malformations Diagnoses and Prevention, Medical University of Lodz, Poland.

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December 2010

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

Pol Merkur Lekarski 2009 Nov;27(161):388-92

II Chair and Department of Pediatry, Gastroenterology and Nutrition, Medical University of Wroclaw, Poland.

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November 2009

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

Med Wieku Rozwoj 2009 Jan-Mar;13(1):11-8

Katedra Genetyki AM we Wrocławiu, ul. Marcinkowskiego 1, 50-368 Wrocław.

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October 2009

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

Pediatr Endocrinol Diabetes Metab 2009 ;15(4):266-70

Klinika Endokrynologii i Diabetologii Wieku Rozwojowego Akademii Medycznej we Wrocławiu.

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June 2010

Bladder agenesis in a male neonate.

J Pediatr Surg 2008 Nov;43(11):e1-3

Department of Pediatric Surgery and Urology, University of Medicine, Wrocław, Poland.

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November 2008

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

Eur J Pediatr 2008 Sep 14;167(9):1063-5. Epub 2007 Nov 14.

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50-368, Poland.

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September 2008

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

Anticancer Res 2006 Nov-Dec;26(6B):4597-601

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368, Wroclaw, Poland.

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January 2007

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

Med Wieku Rozwoj 2004 Jul-Sep;8(3 Pt 2):663-75

Katedra Patofizjologii, Akademia Medyczna, Marcinkowskiego 1, 50-368 Wrocław, Poland.

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October 2006

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

J Pediatr Gastroenterol Nutr 2005 Jan;40(1):87-9

Department of Paediatrics, Gastroenterology and Nutrition, Medical University, Wroclaw, Poland.

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January 2005