Literature DB >> 4272099

An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition.

E B Singleton, D F Merten.   

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Year:  1973        PMID: 4272099     DOI: 10.1007/bf00972817

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


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  4 in total

1.  The radiographic features of severe idiopathic hypercalcemia of infancy.

Authors:  E B SINGLETON
Journal:  Radiology       Date:  1957-05       Impact factor: 11.105

2.  An experimental histologic study of hypervitaminosis D.

Authors:  G M HASS; R E TRUEHEART; C B TAYLOR; M STUMPE
Journal:  Am J Pathol       Date:  1958 May-Jun       Impact factor: 4.307

Review 3.  Differential diagnosis of hypercalcemia.

Authors:  R S Goldsmith
Journal:  N Engl J Med       Date:  1966-03-24       Impact factor: 91.245

4.  Oculodentodigital dysplasia.

Authors:  S H Reisner; E Kott; B Bornstein; H Salinger; I Kaplan; R J Gorlin
Journal:  Am J Dis Child       Date:  1969-10
  4 in total
  19 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

Review 2.  Intracellular Nucleic Acid Detection in Autoimmunity.

Authors:  John T Crowl; Elizabeth E Gray; Kathleen Pestal; Hannah E Volkman; Daniel B Stetson
Journal:  Annu Rev Immunol       Date:  2017-01-30       Impact factor: 28.527

Review 3.  Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.

Authors:  Zhong-Xun Yu; Hong-Mei Song
Journal:  World J Pediatr       Date:  2019-08-03       Impact factor: 2.764

4.  A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Authors:  Frank Rutsch; Mary MacDougall; Changming Lu; Insa Buers; Olga Mamaeva; Yvonne Nitschke; Gillian I Rice; Heidi Erlandsen; Hans Gerd Kehl; Holger Thiele; Peter Nürnberg; Wolfgang Höhne; Yanick J Crow; Annette Feigenbaum; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

5.  Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Authors:  Mi-Ae Jang; Eun Kyoung Kim; Hesung Now; Nhung T H Nguyen; Woo-Jong Kim; Joo-Yeon Yoo; Jinhyuk Lee; Yun-Mi Jeong; Cheol-Hee Kim; Ok-Hwa Kim; Seongsoo Sohn; Seong-Hyeuk Nam; Yoojin Hong; Yong Seok Lee; Sung-A Chang; Shin Yi Jang; Jong-Won Kim; Myung-Shik Lee; So Young Lim; Ki-Sun Sung; Ki-Tae Park; Byoung Joon Kim; Joo-Heung Lee; Duk-Kyung Kim; Changwon Kee; Chang-Seok Ki
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

Review 6.  MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Authors:  Insa Buers; Gillian I Rice; Yanick J Crow; Frank Rutsch
Journal:  J Interferon Cytokine Res       Date:  2017-05       Impact factor: 2.607

7.  Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Authors:  Luciana Martins de Carvalho; Gonza Ngoumou; Ji Woo Park; Nadja Ehmke; Nikolaus Deigendesch; Naoki Kitabayashi; Isabelle Melki; Flávio Falcäo L Souza; Andreas Tzschach; Marcello H Nogueira-Barbosa; Virgínia Ferriani; Paulo Louzada-Junior; Wilson Marques; Charles M Lourenço; Denise Horn; Tilmann Kallinich; Werner Stenzel; Sun Hur; Gillian I Rice; Yanick J Crow
Journal:  Arthritis Rheumatol       Date:  2017-08-22       Impact factor: 10.995

8.  Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.

Authors:  Arda Ozyuksel; Cihangir Ersoy; Emir Canturk; Atif Akcevin
Journal:  BMJ Case Rep       Date:  2014-09-05

9.  Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome.

Authors:  F Pombo; C Isla; A Gayol; A Bargiela
Journal:  Pediatr Radiol       Date:  1995

Review 10.  Medial vascular calcification revisited: review and perspectives.

Authors:  Peter Lanzer; Manfred Boehm; Victor Sorribas; Marc Thiriet; Jan Janzen; Thomas Zeller; Cynthia St Hilaire; Catherine Shanahan
Journal:  Eur Heart J       Date:  2014-04-16       Impact factor: 29.983

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