Literature DB >> 4376705

A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.

W D Lenz, F Majewski.   

Abstract

Entities:  

Mesh：

Year:  1974        PMID： 4376705

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


× No keyword cloud information.
  12 in total

1.  [Bright ocular background with profound cutis laxa and large fontanelles].

Authors:  I Marjanovic; B Seitz; B Käsmann-Kellner
Journal:  Ophthalmologe       Date:  2015-01       Impact factor: 1.059

Review 2.  Human Genetics of Sclerosing Bone Disorders.

Authors:  Raphaël De Ridder; Eveline Boudin; Geert Mortier; Wim Van Hul
Journal:  Curr Osteoporos Rep       Date:  2018-06       Impact factor: 5.096

3.  Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.

Authors:  Mira Sohn; Tamas Balla
Journal:  J Rare Dis Res Treat       Date:  2016-12-29

4.  Historical perspective: phosphatidylserine and phosphatidylethanolamine from the 1800s to the present.

Authors:  Jean E Vance
Journal:  J Lipid Res       Date:  2018-04-16       Impact factor: 5.922

5.  Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Authors:  Koichi Mizuguchi; Osamu Miyazaki; Gen Nishimura; Akira Ishigro
Journal:  Pediatr Radiol       Date:  2015-03-17

6.  Congenital anomalies in patients with choanal atresia: CHARGE-association.

Authors:  B Koletzko; F Majewski
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183

7.  A Japanese patient with a mild Lenz-Majewski syndrome.

Authors:  Sumito Dateki; Tatsuro Kondoh; Gen Nishimura; Katsuaki Motomura; Koh-Ichiro Yoshiura; Akira Kinoshita; Hideo Kuniba; Yoshiyuki Koga; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2007-06-26       Impact factor: 3.172

8.  Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.

Authors:  Mira Sohn; Pavlina Ivanova; H Alex Brown; Daniel J Toth; Peter Varnai; Yeun Ju Kim; Tamas Balla
Journal:  Proc Natl Acad Sci U S A       Date:  2016-04-04       Impact factor: 11.205

9.  Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Authors:  Sérgio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlová; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; Gudrun E Moore
Journal:  Nat Genet       Date:  2013-11-17       Impact factor: 38.330

Review 10.  Functions of Oxysterol-Binding Proteins at Membrane Contact Sites and Their Control by Phosphoinositide Metabolism.

Authors:  Fubito Nakatsu; Asami Kawasaki
Journal:  Front Cell Dev Biol       Date:  2021-06-24
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.