Literature DB >> 17120039

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.

Jung Min Ko1, Jung Hyun Lee, Gu-Hwan Kim, Ai-Rhan Kim, Han-Wook Yoo.   

Abstract

Mesh：

Year:  2006        PMID： 17120039     DOI： 10.1007/s00431-006-0321-y

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

Review 1.  IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

Authors:  E Vilain; M Le Merrer; C Lecointre; F Desangles; M A Kay; P Maroteaux; E R McCabe
Journal:  J Clin Endocrinol Metab       Date:  1999-12       Impact factor: 5.958

Review 2.  Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

Authors:  Ignacio Bergadá; Graciela Del Rey; Pablo Lapunzina; César Bergadá; Marc Fellous; Silvia Copelli
Journal:  J Clin Endocrinol Metab       Date:  2005-03-15       Impact factor: 5.958

3.  IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.

Authors:  C C Pedreira; R Savarirayan; Margaret R Zacharin
Journal:  J Pediatr       Date:  2004-02       Impact factor: 4.406

4.  Establishment of a normal range of penile length in preterm infants.

Authors:  R Tuladhar; P G Davis; J Batch; L W Doyle
Journal:  J Paediatr Child Health       Date:  1998-10       Impact factor: 1.954

5.  IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.

Authors:  Anne Lienhardt; Jean-C Mas; Gabriel Kalifa; Jean-Louis Chaussain; Maïthé Tauber
Journal:  Horm Res       Date:  2002
  5 in total
  1 in total

1.  Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Authors:  Valerie A Arboleda; Hane Lee; Rahul Parnaik; Alice Fleming; Abhik Banerjee; Bruno Ferraz-de-Souza; Emmanuèle C Délot; Imilce A Rodriguez-Fernandez; Debora Braslavsky; Ignacio Bergadá; Esteban C Dell'Angelica; Stanley F Nelson; Julian A Martinez-Agosto; John C Achermann; Eric Vilain
Journal:  Nat Genet       Date:  2012-05-27       Impact factor: 38.330
  1 in total

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