Literature DB >> 4823202

Craniodiaphyseal dysplasia, a disease or group of diseases?

R I Macpherson.   

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Year:  1974        PMID： 4823202

Source DB:  PubMed          Journal:  J Can Assoc Radiol        ISSN： 0008-2902


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  9 in total

Review 1.  Craniodiaphyseal dysplasia.

Authors:  L A Brueton; R M Winter
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

Review 2.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

3.  Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia.

Authors:  D A McHugh; G E Rose; A Garner
Journal:  Br J Ophthalmol       Date:  1994-06       Impact factor: 4.638

4.  An unusual form of blink reflex induced by pressing on a frontal burr hole.

Authors:  A B Safran; G L Laffi; B Demierre
Journal:  Br J Ophthalmol       Date:  1994-06       Impact factor: 4.638

5.  Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors:  Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon-La Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; Andrea Superti-Furga; Dong-Kyu Jin
Journal:  Hum Genet       Date:  2011-01-09       Impact factor: 4.132

6.  Engelmann's disease with optic atrophy.

Authors:  J P Soni; B D Gupta; M Soni; V Mund; Rajesh Aneja
Journal:  Indian J Pediatr       Date:  2002-09       Impact factor: 1.967

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.  Sclerosteosis in children.

Authors:  B J Cremin
Journal:  Pediatr Radiol       Date:  1979-07-24

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
  9 in total

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