R Smigiel

Summary

Country: Poland

Publications

  1. ncbi [Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist]
    Robert Smigiel
    Katedra Genetyki AM we Wroclawiu
    Med Wieku Rozwoj 15:7-15. 2011
  2. ncbi Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature
    Robert Smigiel
    Genetics Department, Wroclaw Medical University, Poland
    Am J Med Genet A 155:1102-5. 2011
  3. ncbi Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome
    Robert Smigiel
    Genetics Department, Medical University, Wroclaw
    Endokrynol Pol 61:318-21. 2010
  4. ncbi Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient
    R Smigiel
    Department of Genetics, Wrocław Medical University, Marcinkowskiego 1, 50 368 Wrocław, Poland
    J Appl Genet 51:111-3. 2010
  5. ncbi Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature
    Robert Smigiel
    Genetics Department, Wroclaw Medical University, Wroclaw, Poland
    Am J Med Genet A 152:447-52. 2010
  6. ncbi [Isolated and syndromic forms of oesophageal atresia - genetic aspects and counselling]
    Robert Smigiel
    Katedra Genetyki AM we Wrocławiu, ul Marcinkowskiego 1, 50 368 Wrocław
    Med Wieku Rozwoj 13:11-8. 2009
  7. ncbi The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem
    Robert Smigiel
    Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50 368, Poland
    Eur J Pediatr 167:1063-5. 2008
  8. ncbi Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype
    Robert Smigiel
    Genetics Department, Medical University, Wrocław, Poland
    J Appl Genet 47:261-7. 2006
  9. ncbi Microsatellite and chromosome instability in squamous cell laryngeal carcinoma
    M Sasiadek
    Department of Genetics, Medical University of Wroclaw, Marcinkowskiego 1, 50 368 Wroclaw, Poland
    Int J Oncol 19:401-5. 2001
  10. ncbi Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer
    M M Sasiadek
    Department of Genetics, Medical University, ul Marcinkowskiego 1, Wroclaw 50 368, Poland
    Br J Cancer 90:1594-9. 2004

Collaborators

Detail Information

Publications23

  1. ncbi [Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist]
    Robert Smigiel
    Katedra Genetyki AM we Wroclawiu
    Med Wieku Rozwoj 15:7-15. 2011
    ....
  2. ncbi Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature
    Robert Smigiel
    Genetics Department, Wroclaw Medical University, Poland
    Am J Med Genet A 155:1102-5. 2011
    ....
  3. ncbi Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome
    Robert Smigiel
    Genetics Department, Medical University, Wroclaw
    Endokrynol Pol 61:318-21. 2010
    ..Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits...
  4. ncbi Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient
    R Smigiel
    Department of Genetics, Wrocław Medical University, Marcinkowskiego 1, 50 368 Wrocław, Poland
    J Appl Genet 51:111-3. 2010
    ..The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1)...
  5. ncbi Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature
    Robert Smigiel
    Genetics Department, Wroclaw Medical University, Wroclaw, Poland
    Am J Med Genet A 152:447-52. 2010
    ..50delA) and exon 5 (c.584_585delAT) of the ZMPSTE24 gene. The autosomal recessive inheritance was confirmed by the parents' genomic analysis. Besides, a review of the mutations causing RD is made...
  6. ncbi [Isolated and syndromic forms of oesophageal atresia - genetic aspects and counselling]
    Robert Smigiel
    Katedra Genetyki AM we Wrocławiu, ul Marcinkowskiego 1, 50 368 Wrocław
    Med Wieku Rozwoj 13:11-8. 2009
    ..The clinical aspects, genetic counselling as well as the genetic basis of chosen genetic syndromes with oesophageal atresia are also described in this article...
  7. ncbi The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem
    Robert Smigiel
    Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50 368, Poland
    Eur J Pediatr 167:1063-5. 2008
    ....
  8. ncbi Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype
    Robert Smigiel
    Genetics Department, Medical University, Wrocław, Poland
    J Appl Genet 47:261-7. 2006
    ..Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR...
  9. ncbi Microsatellite and chromosome instability in squamous cell laryngeal carcinoma
    M Sasiadek
    Department of Genetics, Medical University of Wroclaw, Marcinkowskiego 1, 50 368 Wroclaw, Poland
    Int J Oncol 19:401-5. 2001
    ..In a group of 20 patients LOH was observed mainly at the loci 3p (64.7%), 8q (71.4%), 17q (M1-30.8%, M2-25%, M3-38.5%). Despite chromosomal instability detected by bleomycin no microsatellite instability was observed...
  10. ncbi Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer
    M M Sasiadek
    Department of Genetics, Medical University, ul Marcinkowskiego 1, Wroclaw 50 368, Poland
    Br J Cancer 90:1594-9. 2004
    ..LOH in MLH1 correlates with lower and LOH in CDKN2A with higher grades of LSCC. It can be concluded that MLH1 and CDKN2A play an important role in LSCC development and progression...
  11. ncbi [Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation]
    Ewa Barg
    Klinika Endokrynologii i Diabetologii Wieku Rozwojowego Akademii Medycznej we Wrocławiu
    Pediatr Endocrinol Diabetes Metab 15:266-70. 2009
    ..In children with dysmorphic features and normal karyotype of blood lymphocytes a wide-ranged genetic counseling is necessary...
  12. ncbi Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue
    Tomasz Krecicki
    Department of Otolaryngology, Wroclaw Medical University, Poland
    J Laryngol Otol 118:676-80. 2004
    ..Our study confirms that dysfunction of cell cycle regulation is a common event and may play a significant role in the development of squamous cell carcinoma of the larynx...
  13. ncbi The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy
    Franciszek Iwanczak
    Department of Paediatrics, Gastroenterology and Nutrition, Medical University, Wroclaw, Poland
    J Pediatr Gastroenterol Nutr 40:87-9. 2005
  14. ncbi Bladder agenesis in a male neonate
    Dariusz Patkowski
    Department of Pediatric Surgery and Urology, University of Medicine, Wrocław, Poland
    J Pediatr Surg 43:e1-3. 2008
    ..This is a case report of a male patient with several congenital anomalies including penoscrotal transposition, severe kidney's dysplasia, and agenesis of the bladder. The patient lived for 4 months and died because of severe pneumonia...
  15. ncbi [Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis]
    Izabela Laczmanska
    Katedra i Zakład Genetyki, Akademia Medyczna we Wrocławiu
    Ginekol Pol 78:952-5. 2007
    ..The time necessary to obtain fetal karyotype result with the usage of the classical cytogenetic methods is about 2-3 weeks and depends mainly on the culture growth rate...
  16. ncbi [The role of ret gene in the pathogenesis of Hirschsprung disease]
    Robert Smigiel
    Katedra Patofizjologii, Akademia Medyczna, Marcinkowskiego 1, 50 368 Wrocław, Poland
    Med Wieku Rozwoj 8:663-75. 2004
    ..This review focuses on recent advances of the importance of RET gene in the etiology of Hirschsprung disease...
  17. ncbi [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]
    Franciszek Iwanczak
    Klinika Pediatrii, Gastroenterologii i Zywienia AM we Wrocławiu
    Pol Merkur Lekarski 18:205-9. 2005
    ..The aim of the study was to analyse retrospectively the genotype and phenotype of children with cystic fibrosis and to search the correlation between type of mutation in CFTR and clinical manifestation of the gastrointestinal tract...
  18. ncbi Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance
    Maria M Sasiadek
    Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50 368, Wroclaw, Poland
    Anticancer Res 26:4597-601. 2006
    ..Thus, the hypothesis that down-regulation of MLH1 in combination with aberrant cell cycle control may contribute to chromosomal instability in LSCC was tested...
  19. ncbi 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
    Robert Smigiel
    Genetics Department, Wroclaw Medical University, Wroclaw, Poland
    Clin Dysmorphol 16:63-4. 2007
    ....
  20. ncbi Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype
    Pawel Karpinski
    Department of Genetics, Wroclaw Medical University, ul Marcinkowskiego 1, Wroclaw, Poland
    Cancer Epidemiol 34:338-44. 2010
    ..The aim of the present study was to evaluate whether polymorphisms in the genes encoding methyl-group metabolism pathway predispose to CIMP+ and/or CIMP- CRC...
  21. ncbi Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx
    Robert Smigiel
    Department of Pathophysiology, Wroclaw Medical University, Poland
    Mol Carcinog 39:147-54. 2004
    ..9% of G1 cancers. The results indicate that CDKN2A inactivation played a significant role in the development of squamous cell carcinoma of the larynx...
  22. ncbi Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer
    Robert Smigiel
    Department of Pathophysiology, Medical University of Wroclaw, 50 368 Wroclaw, Poland
    Oncol Rep 11:707-10. 2004
    ....
  23. ncbi 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)
    Joanna Bernaciak
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 146:2449-54. 2008
    ..5 Mb from 11qter and usually deleted in patients with JBS, is intact. Our data support previous hypotheses that FLI1 haploinsufficiency is responsible for thrombocytopenia in patients with JBS...