Literature DB >> 18627050

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Alireza Baradaran-Heravi1, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F Boerkoel, Ilkka Kaitila.   

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Year:  2008        PMID： 18627050      PMCID： PMC2576743          DOI： 10.1002/ajmg.a.32406

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  36 in total

1.  Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.

Authors:  Chaim M Roifman; Yiping Gu; Amos Cohen
Journal:  J Allergy Clin Immunol       Date:  2006-04       Impact factor: 10.793

2.  Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Authors:  C F Boerkoel; S O'Neill; J L André; P J Benke; R Bogdanovíć; M Bulla; A Burguet; S Cockfield; I Cordeiro; J H Ehrich; S Fründ; D F Geary; A Ieshima; F Illies; M W Joseph; I Kaitila; G Lama; B Leheup; M D Ludman; D R McLeod; A Medeira; D V Milford; T Ormälä; Z Rener-Primec; A Santava; H G Santos; B Schmidt; G C Smith; J Spranger; N Zupancic; R Weksberg
Journal:  Eur J Pediatr       Date:  2000 Jan-Feb       Impact factor: 3.183

3.  Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

Authors:  Thomas Lücke; Doris Franke; J Marietta Clewing; Cornelius F Boerkoel; Jochen H H Ehrich; Anibh M Das; Miroslav Zivicnjak
Journal:  Pediatrics       Date:  2006-06-30       Impact factor: 7.124

4.  RMRP mutations in cartilage-hair hypoplasia.

Authors:  Pia Hermanns; Alyssa Tran; Elda Munivez; Susan Carter; Bernhard Zabel; Brendan Lee; Jules G Leroy
Journal:  Am J Med Genet A       Date:  2006-10-01       Impact factor: 2.802

Review 5.  RNase MRP RNA and human genetic diseases.

Authors:  Allison N Martin; Yong Li
Journal:  Cell Res       Date:  2007-03       Impact factor: 25.617

6.  Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Authors:  J Marietta Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Choi; Thomas Lücke; Harika Alpay; Jean-Luc André; Yumi Asakura; Nathalie Biebuyck-Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; Valerie Cormier-Daire; Karlien Cransberg; Karel Cutka; Georges Deschenes; Jochen H H Ehrich; Stefan Fründ; Helen Georgaki; Encarna Guillen-Navarro; Barbara Hinkelmann; Maria Kanariou; Belde Kasap; Sara Sebnem Kilic; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; David Milford; Denis Morin; Nihal Ozdemir; Bertram F Pontz; Willem Proesmans; Stavroula Psoni; Herbert Reichenbach; Silke Reif; Cristina Rusu; Jorge M Saraiva; Onur Sakallioglu; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Graham Smith; Flora Sotsiou; Natasa Stajic; Anja Stein; Asbjørg Stray-Pedersen; Doris Taha; Sophie Taque; Jane Tizard; Michel Tsimaratos; Newton A C S Wong; Cornelius F Boerkoel
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

7.  Schimke immuno-osseous dysplasia: a clinicopathological correlation.

Authors:  J Marietta Clewing; Barbara C Antalfy; Thomas Lücke; Behzad Najafian; Katja M Marwedel; Akira Hori; Ralph M Powel; A F Safo Do; Lydia Najera; Karen SantaCruz; M John Hicks; Dawna L Armstrong; Corndins F Boerkoel
Journal:  J Med Genet       Date:  2006-07-13       Impact factor: 6.318

8.  Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Authors:  Christian T Thiel; Geert Mortier; Ilkka Kaitila; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-08-06       Impact factor: 11.025

9.  An essential switch in subunit composition of a chromatin remodeling complex during neural development.

Authors:  Julie Lessard; Jiang I Wu; Jeffrey A Ranish; Mimi Wan; Monte M Winslow; Brett T Staahl; Hai Wu; Ruedi Aebersold; Isabella A Graef; Gerald R Crabtree
Journal:  Neuron       Date:  2007-07-19       Impact factor: 17.173

10.  Identification of multiple distinct Snf2 subfamilies with conserved structural motifs.

Authors:  Andrew Flaus; David M A Martin; Geoffrey J Barton; Tom Owen-Hughes
Journal:  Nucleic Acids Res       Date:  2006-05-31       Impact factor: 16.971
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  7 in total

1.  Steroid-resistant nephrotic syndrome in a child with dysmorphic features: answers.

Authors:  Osama Safdar; Sherif M El-Desoky; Detlef Bockenhauer; Neil Sebire; Neil Sabire; Jameela A Kari
Journal:  Pediatr Nephrol       Date:  2014-01-29       Impact factor: 3.714

Review 2.  Overview of Immunodeficiency Disorders.

Authors:  Nikita Raje; Chitra Dinakar
Journal:  Immunol Allergy Clin North Am       Date:  2015-08-25       Impact factor: 3.479

3.  Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Authors:  Marie Morimoto; Zhongxin Yu; Peter Stenzel; J Marietta Clewing; Behzad Najafian; Christy Mayfield; Glenda Hendson; Justin G Weinkauf; Andrew K Gormley; David M Parham; Umakumaran Ponniah; Jean-Luc André; Yumi Asakura; Mitra Basiratnia; Radovan Bogdanović; Arend Bokenkamp; Dominique Bonneau; Anna Buck; Joel Charrow; Pierre Cochat; Isabel Cordeiro; Georges Deschenes; M Semin Fenkçi; Pierre Frange; Stefan Fründ; Helen Fryssira; Encarna Guillen-Navarro; Kory Keller; Salman Kirmani; Christine Kobelka; Petra Lamfers; Elena Levtchenko; David B Lewis; Laura Massella; D Ross McLeod; David V Milford; François Nobili; Jorge M Saraiva; C Nur Semerci; Lawrence Shoemaker; Nataša Stajić; Anja Stein; Doris Taha; Dorothea Wand; Jonathan Zonana; Thomas Lücke; Cornelius F Boerkoel
Journal:  Orphanet J Rare Dis       Date:  2012-09-22       Impact factor: 4.123

4.  Cartilage Hair Hypoplasia: First report from Iran.

Authors:  Kobra Shiasi Arani
Journal:  Med J Islam Repub Iran       Date:  2013-08

5.  Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

Authors:  Inma Castilla-Cortázar; Julieta Rodríguez De Ita; Irene Martín-Estal; Fabiola Castorena; Gabriel A Aguirre; Rocío García de la Garza; Martha I Elizondo
Journal:  Am J Med Genet A       Date:  2016-11-14       Impact factor: 2.802

6.  Schimke immunoosseous dysplasia: defining skeletal features.

Authors:  Kshamta B Hunter; Thomas Lücke; Jürgen Spranger; Sarah F Smithson; Harika Alpay; Jean-Luc André; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fründ; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel
Journal:  Eur J Pediatr       Date:  2009-12-15       Impact factor: 3.183

7.  Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Authors:  Patrick Riley; Dennis S Weiner; Bonnie Leighley; David Jonah; D Holmes Morton; Kevin A Strauss; Michael B Bober; Martin S Dicintio
Journal:  J Child Orthop       Date:  2015-03-13       Impact factor: 1.548
  7 in total

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