Literature DB >> 5442429

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.

H M Hoyeraal, J Lamvik, P J Moe.   

Abstract

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Year:  1970        PMID： 5442429     DOI： 10.1111/j.1651-2227.1970.tb08986.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


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  35 in total

Review 1.  The genetics of dyskeratosis congenita.

Authors:  Philip J Mason; Monica Bessler
Journal:  Cancer Genet       Date:  2011-12

2.  Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.

Authors:  Fabien Touzot; Isabelle Callebaut; Jean Soulier; Laetitia Gaillard; Chantal Azerrad; Anne Durandy; Alain Fischer; Jean-Pierre de Villartay; Patrick Revy
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-17       Impact factor: 11.205

3.  Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings.

Authors:  Shigeko Kuwashima
Journal:  Jpn J Radiol       Date:  2009-10-27       Impact factor: 2.374

4.  The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency.

Authors:  F Berthet; P Tuchschmid; E Boltshauser; R A Seger
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

5.  Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Authors:  Fabien Touzot; Laetitia Kermasson; Laurent Jullien; Despina Moshous; Christelle Ménard; Aydan Ikincioğullari; Figen Doğu; Sinan Sari; Vannina Giacobbi-Milet; Amos Etzioni; Jean Soulier; Arturo Londono-Vallejo; Alain Fischer; Isabelle Callebaut; Jean-Pierre de Villartay; Thierry Leblanc; Caroline Kannengiesser; Patrick Revy
Journal:  Blood Adv       Date:  2016-11-22

Review 6.  A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.

Authors:  F Berthet; R Caduff; U B Schaad; H Roten; P Tuchschmid; E Boltshauser; R A Seger
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

7.  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:  Asbjørg Stray-Pedersen; Hanne Sørmo Sorte; Pubudu Samarakoon; Tomasz Gambin; Ivan K Chinn; Zeynep H Coban Akdemir; Hans Christian Erichsen; Lisa R Forbes; Shen Gu; Bo Yuan; Shalini N Jhangiani; Donna M Muzny; Olaug Kristin Rødningen; Ying Sheng; Sarah K Nicholas; Lenora M Noroski; Filiz O Seeborg; Carla M Davis; Debra L Canter; Emily M Mace; Timothy J Vece; Carl E Allen; Harshal A Abhyankar; Philip M Boone; Christine R Beck; Wojciech Wiszniewski; Børre Fevang; Pål Aukrust; Geir E Tjønnfjord; Tobias Gedde-Dahl; Henrik Hjorth-Hansen; Ingunn Dybedal; Ingvild Nordøy; Silje F Jørgensen; Tore G Abrahamsen; Torstein Øverland; Anne Grete Bechensteen; Vegard Skogen; Liv T N Osnes; Mari Ann Kulseth; Trine E Prescott; Cecilie F Rustad; Ketil R Heimdal; John W Belmont; Nicholas L Rider; Javier Chinen; Tram N Cao; Eric A Smith; Maria Soledad Caldirola; Liliana Bezrodnik; Saul Oswaldo Lugo Reyes; Francisco J Espinosa Rosales; Nina Denisse Guerrero-Cursaru; Luis Alberto Pedroza; Cecilia M Poli; Jose L Franco; Claudia M Trujillo Vargas; Juan Carlos Aldave Becerra; Nicola Wright; Thomas B Issekutz; Andrew C Issekutz; Jordan Abbott; Jason W Caldwell; Diana K Bayer; Alice Y Chan; Alessandro Aiuti; Caterina Cancrini; Eva Holmberg; Christina West; Magnus Burstedt; Ender Karaca; Gözde Yesil; Hasibe Artac; Yavuz Bayram; Mehmed Musa Atik; Mohammad K Eldomery; Mohammad S Ehlayel; Stephen Jolles; Berit Flatø; Alison A Bertuch; I Celine Hanson; Victor W Zhang; Lee-Jun Wong; Jianhong Hu; Magdalena Walkiewicz; Yaping Yang; Christine M Eng; Eric Boerwinkle; Richard A Gibbs; William T Shearer; Robert Lyle; Jordan S Orange; James R Lupski
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793

8.  A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Authors:  Maria M Gramatges; Xiaodong Qi; Ghadir S Sasa; Julian J-L Chen; Alison A Bertuch
Journal:  Blood       Date:  2013-03-28       Impact factor: 22.113

Review 9.  Dyskeratosis congenita, stem cells and telomeres.

Authors:  Michael Kirwan; Inderjeet Dokal
Journal:  Biochim Biophys Acta       Date:  2009-02-07

10.  A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Authors:  Paraskevi Vogiatzi; Nieves Perdigones; Philip J Mason; David B Wilson; Monica Bessler
Journal:  Pediatr Blood Cancer       Date:  2013-01-17       Impact factor: 3.167
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