Literature DB >> 7076246

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

J M Cantú, D García-Cruz, J Sánchez-Corona, A Hernández, Z Nazará.   

Abstract

Entities:  

Mesh：

Year:  1982        PMID： 7076246     DOI： 10.1007/bf00281261

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  3 in total

1.  Hypertrichosis lanuginosa in a mother and son.

Authors:  N Freire-Maia; J Felizali; A C de Figueiredo; J M Opitz; M Parreira; N A Maia
Journal:  Clin Genet       Date:  1976-11       Impact factor: 4.438

2.  Congenital hypertrichosis lanuginosa.

Authors:  P Beighton
Journal:  Arch Dermatol       Date:  1970-06

3.  [Hypertrichosis languinosa universalis].

Authors:  W R Felgenhauer
Journal:  J Genet Hum       Date:  1969-05
  3 in total
  31 in total

Review 1.  ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.

Authors:  Peter T Nelson; Gregory A Jicha; Wang-Xia Wang; Eseosa Ighodaro; Sergey Artiushin; Colin G Nichols; David W Fardo
Journal:  Ageing Res Rev       Date:  2015-07-28       Impact factor: 10.895

Review 2.  Pulmonary Hypertension and ATP-Sensitive Potassium Channels.

Authors:  Conor McClenaghan; Kel Vin Woo; Colin G Nichols
Journal:  Hypertension       Date:  2019-05-28       Impact factor: 10.190

3.  Cantu syndrome.

Authors:  Thomas E Herman; William H McAlister
Journal:  Pediatr Radiol       Date:  2005-02-27

4.  Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Authors:  Mazen Kurban; Chong Ae Kim; Maija Kiuru; Katherine Fantauzzo; Rita Cabral; Ossama Abbas; Brynn Levy; Angela M Christiano
Journal:  Dermatology       Date:  2012-02-03       Impact factor: 5.366

5.  Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:  Magdalena Harakalova; Jeske J T van Harssel; Paulien A Terhal; Stef van Lieshout; Karen Duran; Ivo Renkens; David J Amor; Louise C Wilson; Edwin P Kirk; Claire L S Turner; Debbie Shears; Sixto Garcia-Minaur; Melissa M Lees; Alison Ross; Hanka Venselaar; Gert Vriend; Hiroki Takanari; Martin B Rook; Marcel A G van der Heyden; Folkert W Asselbergs; Hans M Breur; Marielle E Swinkels; Ingrid J Scurr; Sarah F Smithson; Nine V Knoers; Jasper J van der Smagt; Isaac J Nijman; Wigard P Kloosterman; Mieke M van Haelst; Gijs van Haaften; Edwin Cuppen
Journal:  Nat Genet       Date:  2012-05-18       Impact factor: 38.330

Review 6.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

7.  Clinical utility gene card for: Cantú syndrome.

Authors:  Edwin P Kirk; Ingrid Scurr; Gijs van Haaften; Mieke M van Haelst; Colin G Nichols; Maggie Williams; Sarah F Smithson; Dorothy K Grange
Journal:  Eur J Hum Genet       Date:  2017-01-04       Impact factor: 4.246

Review 8.  KATP channels and cardiovascular disease: suddenly a syndrome.

Authors:  Colin G Nichols; Gautam K Singh; Dorothy K Grange
Journal:  Circ Res       Date:  2013-03-29       Impact factor: 17.367

Review 9.  The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors:  Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

Review 10.  [Hypertrichosis].

Authors:  R M Trüeb
Journal:  Hautarzt       Date:  2008-04       Impact factor: 0.751
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