Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Syndrome and DHCR7[original query] |
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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 |
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 |
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 |
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 |
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 |
Vitamin D-associated polymorphisms are related to insulin resistance and vitamin D deficiency in polycystic ovary syndrome. European journal of endocrinology / European Federation of Endocrine Societies 2011 May 164 (5): 741-9. Wehr Elisabeth, Trummer Olivia, Giuliani Albrecht, Gruber Hans-Jürgen, Pieber Thomas R, Obermayer-Pietsch Barba |
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 |
Polymorphisms in genetics of vitamin D metabolism confer susceptibility to ocular Behçet disease in a Chinese Han population. American journal of ophthalmology 2014 Feb 157 (2): 488-494.e6. Fang Jing, Hou Shengping, Xiang Qin, Qi Jian, Yu Hongsong, Shi Yanyun, Zhou Yan, Kijlstra Aize, Yang Peize |
Association of 25-hydroxyvitamin D with cardiometabolic risk factors and metabolic syndrome: a mendelian randomization study. Nutrition journal 2019 10 18 (1): 61. Chen Chi, Chen Yi, Weng Pan, Xia Fangzhen, Li Qin, Zhai Hualing, Wang Ningjian, Lu Ying |
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 |
Association of serum 25-hydroxyvitamin D with metabolic syndrome and type 2 diabetes: a one sample Mendelian randomization study. BMC geriatrics 2021 06 21 (1): 391. Xiao Jing, Lv Jingyi, Wang Shiyu, Zhou Yang, Chen Lunwen, Lu Juying, Zhang Xiaoyi, Wang Xiaojian, Gu Yunjuan, Lu Qingy |
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 |
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome. Steroids 2021 Mar 169 108825. Elbehairy Mariam M, Abdelnasser Hala Y, Hanafi Rasha S, Hassanein Sally I, Gad Mohamed |
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 |
De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature. Frontiers in pediatrics 2023 5 11 1097062. Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei |
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