Literature DB >> 23790112

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

M S Ellingson1, M J Wick, W M White, K M Raymond, A K Saenger, P N Pichurin, C A Wassif, F D Porter, D Babovic-Vuksanovic.   

Abstract

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Year:  2013        PMID： 23790112      PMCID： PMC3883898          DOI： 10.1111/cge.12209

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Authors:  Christopher A Wassif; Patrycja A Krakowiak; Brooke S Wright; Jennifer S Gewandter; Allison L Sterner; Norman Javitt; Alfred L Yergey; Forbes D Porter
Journal:  Mol Genet Metab       Date:  2005-02-05       Impact factor: 4.797

2.  Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Authors:  M Witsch-Baumgartner; E Ciara; J Löffler; H J Menzel; U Seedorf; J Burn; G Gillessen-Kaesbach; G F Hoffmann; B U Fitzky; H Mundy; P Clayton; R I Kelley; M Krajewska-Walasek; G Utermann
Journal:  Eur J Hum Genet       Date:  2001-01       Impact factor: 4.246

3.  Maternal serum cholesterol levels are elevated from the 1st trimester of pregnancy: a cross-sectional study.

Authors:  Ä Bartels; N Egan; D I Broadhurst; A S Khashan; C Joyce; M Stapleton; J O'Mullane; K O'Donoghue
Journal:  J Obstet Gynaecol       Date:  2012-11       Impact factor: 1.246

4.  A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

Authors:  Haiyan Zhu; H Michael Tucker; Karrie E Grear; James F Simpson; Alisa K Manning; L Adrienne Cupples; Steven Estus
Journal:  Hum Mol Genet       Date:  2007-05-21       Impact factor: 6.150
  4 in total
  8 in total

1.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

2.  Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Authors:  J L Cross; J Iben; C L Simpson; A Thurm; S Swedo; E Tierney; J E Bailey-Wilson; L G Biesecker; F D Porter; C A Wassif
Journal:  Clin Genet       Date:  2014-06-06       Impact factor: 4.438

3.  Identification and characterization of prescription drugs that change levels of 7-dehydrocholesterol and desmosterol.

Authors:  Phillip A Wages; Hye-Young H Kim; Zeljka Korade; Ned A Porter
Journal:  J Lipid Res       Date:  2018-08-07       Impact factor: 5.922

4.  Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.

Authors:  Zeljka Korade; Thiago C Genaro-Mattos; Keri A Tallman; Wei Liu; Krassimira A Garbett; Katalin Koczok; Istvan Balogh; Karoly Mirnics; Ned A Porter
Journal:  J Lipid Res       Date:  2017-09-28       Impact factor: 5.922

5.  Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Authors:  Simona E Bianconi; Joanna L Cross; Christopher A Wassif; Forbes D Porter
Journal:  Expert Opin Orphan Drugs       Date:  2015-03       Impact factor: 0.694

6.  Auditory phenotype of Smith-Lemli-Opitz syndrome.

Authors:  Christopher K Zalewski; Sarah A Sydlowski; Kelly A King; Simona Bianconi; An Dang Do; Forbes D Porter; Carmen C Brewer
Journal:  Am J Med Genet A       Date:  2021-02-02       Impact factor: 2.578

Review 7.  Impact of pregnancy on inborn errors of metabolism.

Authors:  Gisela Wilcox
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

8.  Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Authors:  Maurizio Delvecchio; Biagio Rapone; Simonetta Simonetti; Simona Fecarotta; Graziana De Carlo; Elvira Favoino; Maria Teresa Loverro; Anna Maria Isdraele Romano; Federica Taurino; Edoardo Di Naro; Antonio Gnoni
Journal:  Ital J Pediatr       Date:  2020-10-28       Impact factor: 2.638
  8 in total

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