Genomes and Genes
- [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....
- Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literatureRobert Smigiel
Genetics Department, Wroclaw Medical University, Poland
Am J Med Genet A 155:1102-5. 2011....
- Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndromeRobert 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...
- Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patientR 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)...
- Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literatureRobert 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...
- [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...
- The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problemRobert Smigiel
Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, 50 368, Poland
Eur J Pediatr 167:1063-5. 2008....
- Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotypeRobert 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...
- Microsatellite and chromosome instability in squamous cell laryngeal carcinomaM 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...
- Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancerM 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...
- [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...
- Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissueTomasz 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...
- The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boyFranciszek Iwanczak
Department of Paediatrics, Gastroenterology and Nutrition, Medical University, Wroclaw, Poland
J Pediatr Gastroenterol Nutr 40:87-9. 2005
- Bladder agenesis in a male neonateDariusz 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...
- [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...
- [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...
- [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...
- Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalanceMaria 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...
- 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 daughterRobert Smigiel
Genetics Department, Wroclaw Medical University, Wroclaw, Poland
Clin Dysmorphol 16:63-4. 2007....
- Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotypePawel 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...
- Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynxRobert 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...
- Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancerRobert Smigiel
Department of Pathophysiology, Medical University of Wroclaw, 50 368 Wroclaw, Poland
Oncol Rep 11:707-10. 2004....
- 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...