Robert Smigiel

Robert Smigiel

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Robert Smigiel

Robert Smigiel

Publications by authors named "Robert Smigiel"

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76Publications

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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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http://dx.doi.org/10.1055/s-0038-1641597DOI Listing
June 2019

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

Epigenomics 2019 May 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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http://dx.doi.org/10.2217/epi-2018-0221DOI Listing
May 2019

The impact of congenital esophageal atresia on the family functioning.

J Pediatr Nurs 2019 Apr 23. Epub 2019 Apr 23.

Department of Paediatrics Surgery and Urology, Wroclaw Medical University, M. Skłodowskiej-Curie 50/52, 50-369 Wrocław, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08825963183047
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http://dx.doi.org/10.1016/j.pedn.2019.04.009DOI Listing
April 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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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 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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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

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

Am J Med Genet A 2018 07 25;176(7):1670-1674. Epub 2018 May 25.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.38837DOI Listing
July 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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http://dx.doi.org/10.1007/s11910-017-0729-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346116PMC
March 2017

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

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

Adv Exp Med Biol 2016 ;912:1-9

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Warsaw, Poland.

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http://dx.doi.org/10.1007/5584_2016_235DOI Listing
December 2016

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

Am J Med Genet A 2016 12 8;170(12):3265-3270. Epub 2016 Sep 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37887DOI Listing
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

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

Birth Defects Res A Clin Mol Teratol 2016 Apr 16;106(4):304-7. Epub 2016 Feb 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1002/bdra.23488DOI Listing
April 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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http://dx.doi.org/10.1007/s10815-015-0622-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759004PMC
February 2016

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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http://dx.doi.org/10.18544/PEDM-21.02.0029DOI Listing
February 2016

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

J Appl Genet 2015 Aug 6;56(3):311-6. Epub 2015 Jan 6.

Division of Molecular Genetics, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s13353-014-0263-4DOI Listing
August 2015

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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http://dx.doi.org/10.1038/ajg.2014.346DOI Listing
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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http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
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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http://dx.doi.org/10.1002/bdra.23239DOI Listing
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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http://dx.doi.org/10.5604/17322693.1093206DOI Listing
March 2014

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

Eur J Med Genet 2014 Jan 12;57(1):40-3. Epub 2013 Nov 12.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.10.007DOI Listing
January 2014

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

Dev Period Med 2014;18(2):169-75

Katedra i Zakład Genetyki UM, Marcinkowskiego 1, 50-368 Wrocław,

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January 2014

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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http://dx.doi.org/10.1097/MPG.0b013e3182a373dcDOI Listing
December 2013

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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http://dx.doi.org/10.1097/MCD.0b013e3283645a30DOI Listing
October 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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http://dx.doi.org/10.1007/s13353-012-0091-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402658PMC
August 2012

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

Clin Dysmorphol 2012 Jul;21(3):167-9

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

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http://dx.doi.org/10.1097/MCD.0b013e3283541e03DOI Listing
July 2012

[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study].

Med Wieku Rozwoj 2011 Oct-Dec;15(4):451-7

Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław.

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May 2012

Giant heart tumors in infants leading to sudden, unexpected death: description of two cases.

Pediatr Int 2011 Dec;53(6):1090-3

Department of Forensic Medicine, Wroclaw Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1111/j.1442-200X.2011.03368.xDOI Listing
December 2011

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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http://dx.doi.org/10.1002/humu.21505DOI Listing
July 2011

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

Am J Med Genet A 2011 May 11;155A(5):1102-5. Epub 2011 Apr 11.

Genetics Department, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.1002/ajmg.a.33895DOI Listing
May 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

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

Endokrynol Pol 2010 May-Jun;61(3):318-21

Genetics Department, Medical University, Wroclaw.

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November 2010

[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

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

Med Wieku Rozwoj 2009 Oct-Dec;13(4):292-301

Katedra Genetyki AM we Wrocławiu.

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April 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

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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http://linkinghub.elsevier.com/retrieve/pii/S002234680800512
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http://dx.doi.org/10.1016/j.jpedsurg.2008.06.003DOI Listing
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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http://dx.doi.org/10.1007/s00431-007-0608-7DOI Listing
September 2008

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

Med Wieku Rozwoj 2006 Oct-Dec;10(4):1093-9

Oddział Intensywnej Terapii Dzieci, Wojewódzkie Centrum Medyczne, Al. W. Witosa 26, 45-418 Opole, Poland.

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August 2007

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

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

Pol Merkur Lekarski 2005 Feb;18(104):205-9

Klinika Pediatrii, Gastroenterologii i Zywienia AM we Wrocławiu.

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February 2005

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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http://dx.doi.org/10.1097/00005176-200501000-00016DOI Listing
January 2005

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

J Laryngol Otol 2004 Sep;118(9):676-80

Department of Otolaryngology, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.1258/0022215042244769DOI Listing
September 2004

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

Mol Carcinog 2004 Mar;39(3):147-54

Department of Pathophysiology, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.1002/mc.20007DOI Listing
March 2004