Published in J Appl Genet on January 01, 2004
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet (2008) 2.88
Parental age as a risk factor for isolated congenital malformations in a Polish population. Paediatr Perinat Epidemiol (2009) 1.61
Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background. Pol J Pathol (2006) 1.23
Telomere maintenance genes SIRT1 and XRCC6 impact age-related decline in telomere length but only SIRT1 is associated with human longevity. Biogerontology (2011) 1.03
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
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A (2004) 0.98
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet (2005) 0.96
The co-occurrence of Toxocara ocular and visceral larva migrans syndrome: a case series. Cases J (2009) 0.92
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. BMC Med Genet (2012) 0.90
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet (2012) 0.89
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
A new form or a variant of SMD type A4. J Appl Genet (2012) 0.82
A new case of DOOR syndrome. J Appl Genet (2008) 0.81
[Frequency of chromosomal aberrations in material from abortions]. Ginekol Pol (2010) 0.81
Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 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
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (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
[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20]. Ginekol Pol (2013) 0.77
[The evaluation of macular thickness in patients with retinal detachment treated with conventional surgery--preliminary report]. Klin Oczna (2004) 0.77
[Use of enzyme in vitreoretinal surgery]. Klin Oczna (2002) 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
[Evaluation of effectiveness of Catalin eyedrops in patients with presenile and senile cataract]. Klin Oczna (2004) 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
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
Osteoarthritis and telomere shortening. 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
[An analysis of the fundus changes in families with high myopia]. Klin Oczna (2007) 0.75
[Radial optic neurotomy (RON) in central retinal vein occlusion (CRVO)--preliminary report]. Klin Oczna (2004) 0.75
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. Ginekol Pol (2016) 0.75
Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors. Pol J Pathol (2007) 0.75
[Treatment results of treatment for congenital, unilateral microcoria and pupil displacement--case report]. Klin Oczna (2003) 0.75
[Retinal changes in patients with familial adenomatous polyposis]. Klin Oczna (2006) 0.75
[Analysis of comparative immunological profiles of intraocular fluid and serum samples in patients suspected of ocular toxoplasmosis or toxocarosis]. Wiad Parazytol (2004) 0.75
[Central serous choroidoretinopathy--the characteristics of the clinical picture and the evaluation of the influence of general conditions at the prognosis and the course of the disease. Metaanalysis]. Klin Oczna (2009) 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
[Central corneal thickness measurement in normal tension glaucoma]. Klin Oczna (2004) 0.75
[Central serous choroidoretinopathy (CSCR)--the diagnostics, monitoring and treatment]. Klin Oczna (2008) 0.75
[Usefulness of new vitreous substitutes (F6H6, F6H8) in the vitreoretinal surgery]. Klin Oczna (2004) 0.75
[Non-Hodgkin lymphoma located in supraorbital skin region]. Klin Oczna (2005) 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
[Is the method of localizing intraocular foreign bodies according to Madroszkiewicz still outstanding?]. Klin Oczna (2005) 0.75
[Chromosomal aberrations--the cause of spontaneous abortions]. Ginekol Pol (2015) 0.75
[Study of TIGR gene in patients with primary open angle glaucoma]. Klin Oczna (2004) 0.75
[Influence of Eqb 761 on the function of the retina in children and adolescent with long lasting diabetes mellitus--preliminary report]. Klin Oczna (2004) 0.75
[Do chromosomal abnormalities reappear in subsequent pregnancies and how often?]. Ginekol Pol (2010) 0.75