HuGE Literature Finder
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| Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
| Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients. Journal of applied genetics 2021 4 62 (3): 469-475. Ró?d?y?ska-?wi?tkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek |
| 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. European journal of obstetrics, gynecology, and reproductive biology 2020 Jun 252 252-255. Chrzanowska-Stegli?ska Marta, Moczulska Hanna, Skoczylas Beata, Pietrusi?ski Micha?, Antosik Karolina, Jakiel Paulina, Kacprzak Marta, Borowiec Maciej, Sieroszewski Pio |
| Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. European journal of human genetics : EJHG 2012 Aug . Lanthaler B, Steichen-Gersdorf E, Kollerits B, Zschocke J, Witsch-Baumgartner M |
| Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of medical genetics 2008 Apr 45 (4): 200-9. Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley R I, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P J, Wollnik B, Krawczak M, Labuda D, Utermann |
| DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Clinical genetics 2004 Dec 66 (6): 517-24. Ciara E, Nowaczyk M J M, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye J S, Utermann G, Krajewska-Walasek |
| Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Journal of medical genetics 2004 Aug 41 (8): 577-84. Witsch-Baumgartner M, Gruber M, Kraft H G, Rossi M, Clayton P, Giros M, Haas D, Kelley R I, Krajewska-Walasek M, Utermann |
| Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. American journal of medical genetics 2001 Sep 102 (4): 383-6. Nowaczyk M J, Nakamura L M, Eng B, Porter F D, Waye J |
| Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Molecular genetics and metabolism 2001 Jan 72 (1): 67-71. Battaile K P, Battaile B C, Merkens L S, Maslen C L, Steiner R |
| SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. European journal of medical genetics 0 49 (6): 499-504. Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski Pawe?, Goryluk-Kozakiewicz B, Nowaczyk M J M, Krajewska-Walasek |
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