Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

[1]  A. Latos-Bieleńska,et al.  Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome. , 2019, Clinical dysmorphology.

[2]  C. Parker,et al.  Smith–Lemli–Opitz Mutations in Unexplained Stillbirths , 2018, American Journal of Perinatology.

[3]  M. Borowiec,et al.  Genetic causes of recurrent miscarriages. , 2016, Ginekologia Polska.

[4]  Claire L. Simpson,et al.  Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets , 2015, Clinical genetics.

[5]  Y. Ville,et al.  Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. , 2012, European journal of medical genetics.

[6]  Aleksandra Jezela-Stanek,et al.  Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? , 2010, Journal of Inherited Metabolic Disease.

[7]  M. Dubiel,et al.  [Prenatal diagnosis of Smith-Lemli-Opitz syndrome--case report]. , 2009, Ginekologia polska.

[8]  F. Porter.  Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management , 2008, European Journal of Human Genetics.

[9]  X. Estivill,et al.  Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations , 2007, Journal of Medical Genetics.

[10]  E. Ciara,et al.  SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. , 2006, European journal of medical genetics.

[11]  J. Haddow,et al.  Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome , 2006, Prenatal diagnosis.

[12]  A. Jezela-Stanek,et al.  Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies , 2005, Clinical genetics.

[13]  J. Opitz,et al.  Prenatal death in Smith–Lemli–Opitz/RSH syndrome , 2005, American journal of medical genetics. Part A.

[14]  R. Steiner,et al.  DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome , 2005, Journal of Medical Genetics.

[15]  A. Jezela-Stanek,et al.  DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome , 2004, Clinical genetics.

[16]  J. Douketis,et al.  Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. , 2004, The Journal of pediatrics.

[17]  P. Clayton,et al.  Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome , 2004, Journal of Medical Genetics.

[18]  E. Bermejo,et al.  Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada , 2003, American journal of medical genetics. Part A.

[19]  M. Nowaczyk,et al.  DHCR7 and Smith-Lemli-Opitz syndrome. , 2001, Clinical and investigative medicine. Medecine clinique et experimentale.

[20]  R. Hennekam,et al.  The Smith-Lemli-Opitz syndrome , 2000, Journal of Medical Genetics.

[21]  J. Opitz,et al.  A newly recognized syndromeof multiple congenital anomalies , 1964 .