Literature DB >> 25967258

Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.

Ruma Deshpande1, Lavanya Parthasarathy2, Ashwin Dalal3, Vaman Khadilkar4, Anuradha Khadilkar2.   

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Year:  2015        PMID： 25967258     DOI： 10.1007/s12098-015-1776-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.

Authors:  Saritha Mohanan; Laxmisha Chandrashekar; Robert K Semple; Devinder Mohan Thappa; Nachiappa Ganesh Rajesh; Vir S Negi; Reena Gulati
Journal:  Int J Dermatol       Date:  2013-07       Impact factor: 2.736

2.  The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

Authors:  Vered Molho-Pessach; José Suarez; Christophe Perrin; Christine Chiaverini; Victoria Doviner; Enriqueta Tristan-Clavijo; Isabel Colmenero; Fabienne Giuliano; Antonio Torrelo; Abraham Zlotogorski
Journal:  J Dermatol Sci       Date:  2009-11-03       Impact factor: 4.563

3.  Introduction to ISPAD Clinical Practice Consensus Guidelines 2014 Compendium.

Authors:  Carlo Acerini; Maria E Craig; Carine de Beaufort; David M Maahs; Ragnar Hanas
Journal:  Pediatr Diabetes       Date:  2014-09       Impact factor: 4.866

4.  The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

Authors:  Vered Molho-Pessach; Ziad Agha; Suhail Aamar; Benjamin Glaser; Victoria Doviner; Nurith Hiller; David Haim Zangen; Annick Raas-Rothschild; Ziva Ben-Neriah; Shaher Shweiki; Orly Elpeleg; Abraham Zlotogorski
Journal:  J Am Acad Dermatol       Date:  2008-04-14       Impact factor: 11.527

5.  SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Authors:  Simon T Cliffe; Jamie M Kramer; Khalid Hussain; Joris H Robben; Eiko K de Jong; Arjan P de Brouwer; Esther Nibbeling; Erik-Jan Kamsteeg; Melanie Wong; Julie Prendiville; Chela James; Raja Padidela; Charlie Becknell; Hans van Bokhoven; Peter M T Deen; Raoul C M Hennekam; Robert Lindeman; Annette Schenck; Tony Roscioli; Michael F Buckley
Journal:  Hum Mol Genet       Date:  2009-03-31       Impact factor: 6.150
  5 in total
  1 in total

1.  Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.

Authors:  Laura Ventura-Espejo; Inés Gracia-Darder; Silvia Escribá-Bori; Eva Regina Amador-González; Ana Martín-Santiago; Jan Ramakers
Journal:  Pediatr Rheumatol Online J       Date:  2021-06-30       Impact factor: 3.054
  1 in total

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