Literature DB >> 24824134

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

Martina Witsch-Baumgartner1, Barbara Lanthaler1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24824134      PMCID： PMC4326718          DOI： 10.1038/ejhg.2014.87

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  18 in total

1.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors:  D W SMITH; L LEMLI; J M OPITZ
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Authors:  Małgorzata J M Nowaczyk; Mattea Tan; Jemila S Hamid; Judith E Allanson
Journal:  Am J Med Genet A       Date:  2012-03-21       Impact factor: 2.802

3.  No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Authors:  Jean-Baptiste Roullet; Louise S Merkens; Anuradha S Pappu; Megan D Jacobs; Rolf Winter; William E Connor; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2012-03-06       Impact factor: 4.982

4.  DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.

Authors:  Libin Xu; Karoly Mirnics; Aaron B Bowman; Wei Liu; Jennifer Da; Ned A Porter; Zeljka Korade
Journal:  Neurobiol Dis       Date:  2011-12-11       Impact factor: 5.996

5.  Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Authors:  M Witsch-Baumgartner; B U Fitzky; M Ogorelkova; H G Kraft; F F Moebius; H Glossmann; U Seedorf; G Gillessen-Kaesbach; G F Hoffmann; P Clayton; R I Kelley; G Utermann
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

6.  DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Authors:  E Ciara; M J M Nowaczyk; M Witsch-Baumgartner; E Malunowicz; E Popowska; A Jezela-Stanek; M Piotrowicz; J S Waye; G Utermann; M Krajewska-Walasek
Journal:  Clin Genet       Date:  2004-12       Impact factor: 4.438

7.  Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Authors:  M Witsch-Baumgartner; M Gruber; H G Kraft; M Rossi; P Clayton; M Giros; D Haas; R I Kelley; M Krajewska-Walasek; G Utermann
Journal:  J Med Genet       Date:  2004-08       Impact factor: 6.318

8.  Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Authors:  M Witsch-Baumgartner; I Schwentner; M Gruber; P Benlian; J Bertranpetit; E Bieth; F Chevy; N Clusellas; X Estivill; G Gasparini; M Giros; R I Kelley; M Krajewska-Walasek; J Menzel; T Miettinen; M Ogorelkova; M Rossi; I Scala; A Schinzel; K Schmidt; D Schönitzer; E Seemanova; K Sperling; M Syrrou; P J Talmud; B Wollnik; M Krawczak; D Labuda; G Utermann
Journal:  J Med Genet       Date:  2007-10-26       Impact factor: 6.318

9.  Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Authors:  Barbara Lanthaler; Elisabeth Steichen-Gersdorf; Barbara Kollerits; Johannes Zschocke; Martina Witsch-Baumgartner
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

10.  Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Authors:  Ryan W Y Lee; Sandra K Conley; Andrea Gropman; Forbes D Porter; Eva H Baker
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802
View more
  2 in total

1.  7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.

Authors:  András Balajthy; Sándor Somodi; Zoltán Pethő; Mária Péter; Zoltán Varga; Gabriella P Szabó; György Paragh; László Vígh; György Panyi; Péter Hajdu
Journal:  Pflugers Arch       Date:  2016-06-17       Impact factor: 3.657

Review 2.  An Update on Vitamin D Metabolism.

Authors:  Federica Saponaro; Alessandro Saba; Riccardo Zucchi
Journal:  Int J Mol Sci       Date:  2020-09-08       Impact factor: 5.923
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.