Published in Ginekol Pol on January 01, 2016
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet (2008) 2.88
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
Parental age as a risk factor for isolated congenital malformations in a Polish population. Paediatr Perinat Epidemiol (2009) 1.61
Paper 6: EUROCAT member registries: organization and activities. Birth Defects Res A Clin Mol Teratol (2011) 1.42
Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background. Pol J Pathol (2006) 1.23
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr (2007) 1.01
Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A (2008) 0.98
Hereditary neuropathy with liability to pressure palsy. Folia Neuropathol (2006) 0.94
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. BMC Med Genet (2010) 0.92
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. BMC Med Genet (2012) 0.90
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet J Rare Dis (2014) 0.89
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet (2012) 0.89
Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome. J Appl Genet (2006) 0.88
PAX6 3' deletion in a family with aniridia. Ophthalmic Genet (2011) 0.87
[Risk factors of pelvic organ prolapsed in women qualified to reconstructive surgery--the Polish multicenter study]. Ginekol Pol (2010) 0.87
Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet (2013) 0.84
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland. BMC Pediatr (2010) 0.83
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. Birth Defects Res A Clin Mol Teratol (2014) 0.83
Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 0.81
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. J Med Genet (2013) 0.81
A new case of DOOR syndrome. J Appl Genet (2008) 0.81
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. J Med Genet (2013) 0.81
[Frequency of chromosomal aberrations in material from abortions]. Ginekol Pol (2010) 0.81
[Overactive bladder--definition, epidemiology, pathogenesis]. Ginekol Pol (2007) 0.79
MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med (2011) 0.79
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (2014) 0.78
Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol (2014) 0.78
Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol (2015) 0.78
[Expression profile of genes associated with the histaminergic system estimated by oligonucleotide microarray analysis HG-U133A in women with endometrial adenocarcinoma]. Ginekol Pol (2014) 0.78
Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year. J Appl Genet (2005) 0.78
[Umbilical cord blood--a perfect source of stem cells?]. Ginekol Pol (2005) 0.77
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. BMC Med Genet (2013) 0.77
Differential effects of morphine and naltrexone on the in vitro LH secretion from male and female carp pituitary gland. Comp Biochem Physiol C Toxicol Pharmacol (2005) 0.77
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review. Am J Med Genet A (2014) 0.77
[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20]. Ginekol Pol (2013) 0.77
Umbilical cord blood NGAL concentration as an early marker of perinatal asphyxia in neonates. Ginekol Pol (2014) 0.77
[Monocyte activity after stimulation by serum of women with endometriosis]. Ginekol Pol (2007) 0.77
Dopamine control of LH release in the tench (Tinca tinca). Gen Comp Endocrinol (2011) 0.77
Estrogen receptor beta delta 6 (ER beta delta 6) isoform in human endometrial hyperplasia and adenocarcinoma. Cancer Invest (2004) 0.76
Seasonal short-term effects of naltrexone on LH secretion in male carp (Cyprinus carpio L.). Comp Biochem Physiol C Toxicol Pharmacol (2002) 0.76
[Estimation of telomerase transcriptive activity in the umbilical cord and the mother's venous blood cells]. Ginekol Pol (2003) 0.76
Effect of long-term dietary lead exposure on some maturation and reproductive parameters of a female Prussian carp (Carassius gibelio B.). Environ Sci Pollut Res Int (2014) 0.76
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) 0.76
Angelman syndrome revisited. Neurologist (2007) 0.76
Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland. Int J Environ Health Res (2014) 0.76
European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans. Public Health Genomics (2014) 0.76
Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). BMC Pediatr (2013) 0.75
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene. J Appl Genet (2014) 0.75
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? J Inherit Metab Dis (2010) 0.75
[Do chromosomal abnormalities reappear in subsequent pregnancies and how often?]. Ginekol Pol (2010) 0.75
Trends in diagnosis and prevalence of critical congenital heart defects in the Podkarpacie province in 2002-2004, based on data from the Polish Registry of Congenital Malformations. J Appl Genet (2006) 0.75
[Expert panel recommendations on therapeutic and diagnostic management of urinary incontinence and overactive bladder in women]. Ginekol Pol (2010) 0.75
[Leaking index--a new urodynamic parameter in the diagnosis of female stress urinary incontinence]. Ginekol Pol (2009) 0.75
[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. Ginekol Pol (2007) 0.75
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet (2017) 0.75
The effects of naltrexone, an opioid receptor antagonist, on plasma LH levels in common carp (Cyprinus carpio L.). Comp Biochem Physiol C Toxicol Pharmacol (2002) 0.75
Preliminary Results Concerning the Influence of Human Kisspeptin on LH Secretion in Prussian Carp (Carassius gibelio) Females at the Stage of Ovarian Recrudescence and Spawning Season. Folia Biol (Krakow) (2015) 0.75
[Expression of melatonin receptors genes and genes associated with regulation of their activity in endometrial cancer]. Ginekol Pol (2015) 0.75
Umbilical activin A concentration as an early marker of perinatal hypoxia. J Matern Fetal Neonatal Med (2012) 0.75
Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors. Pol J Pathol (2007) 0.75
Anti-Müllerian hormone dynamics during ovulation induction treatment with recombinant follicle-stimulating hormone in women with polycystic ovary syndrome. Endokrynol Pol (2013) 0.75
Can neonates born at 34 weeks be classified as late preterm? Ginekol Pol (2016) 0.75
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. Ginekol Pol (2015) 0.75
Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation. Birth Defects Res A Clin Mol Teratol (2009) 0.75
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. Clin Dysmorphol (2016) 0.75
Plasma homocysteine concentrations in mothers and term and preterm newborns. Ginekol Pol (2011) 0.75
[Congenital cystic adenomatoid lung malformation - diagnosis and treatment - based on literature and own experiences]. Med Wieku Rozwoj (2009) 0.75
The effect of aromatase inhibitor, fadrozole, on sGnRHa stimulated LH secretion in goldfish (Carassius auratus) and common carp (Cyprinus carpio). Reprod Biol (2006) 0.75
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. Gynecol Endocrinol (2013) 0.75
[Budd-Chiari syndrome induced by hormonal oral contraception in the patient with congenital thrombophilia-factor V Leiden mutation--a case report]. Ginekol Pol (2008) 0.75
Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma. J Appl Genet (2004) 0.75
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Eur J Med Genet (2010) 0.75
[Activin A as a possible marker for hypoxia and intraventricular haemorrhage in newborns]. Ginekol Pol (2009) 0.75
[Leptin concentration in umbilical cord blood and maternal blood]. Wiad Lek (2004) 0.75
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps. J Appl Genet (2008) 0.75
Cryptic x; autosome translocation in a boy--delineation of the phenotype. Pediatr Neurol (2011) 0.75
[Diagnostic and treatment of overactive bladder]. Ginekol Pol (2007) 0.75
[Chromosomal aberrations--the cause of spontaneous abortions]. Ginekol Pol (2015) 0.75
[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]. Med Wieku Rozwoj (2007) 0.75
Comparison of gene expression of mitogenic kinin path in adherent and non-adherent CD 34-stem cells using oligonucleotide microarrays. Folia Histochem Cytobiol (2008) 0.75
[Study of TIGR gene in patients with primary open angle glaucoma]. Klin Oczna (2004) 0.75
Umbilical markers of perinatal hypoxia. Ginekol Pol (2016) 0.75