Literature DB >> 1999832

Aarskog syndrome.

M E Porteous1, D R Goudie.   

Abstract

Entities:  

Mesh：

Year:  1991        PMID： 1999832      PMCID： PMC1016747          DOI： 10.1136/jmg.28.1.44

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Aarskog syndrome: new oral-facial findings.

Authors:  M Melnick; E D Shields
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

2.  Addditional features of the Aarskog syndrome.

Authors:  P A Duncan; R M Klein; P L Wilmot; L R Shapiro
Journal:  J Pediatr       Date:  1977-11       Impact factor: 4.406

3.  The Aarskog syndrome in three brothers.

Authors:  S J Funderburk; B F Crandall
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

5.  Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.

Authors:  C I Scott
Journal:  Birth Defects Orig Artic Ser       Date:  1971-05

6.  The facial-digital-genital (Aarskog) syndrome.

Authors:  G I Sugarman; D L Rimoin; R S Lachman
Journal:  Am J Dis Child       Date:  1973-08

7.  The Aarskog syndrome.

Authors:  J P Fryns; J Macken; L Vinken; L Igodt-Ameye; H van den Berghe
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

8.  The inheritance of the Aarskog facial-digital-genital syndrome.

Authors:  P Berman; C Desjardins; F C Fraser
Journal:  J Pediatr       Date:  1975-06       Impact factor: 4.406

9.  Umbilical dysmorphology. The importance of contemplating the belly button.

Authors:  J M Friedman
Journal:  Clin Genet       Date:  1985-10       Impact factor: 4.438

10.  The Aarskog (facio-digito-genital) syndrome.

Authors:  J J Hoo
Journal:  Clin Genet       Date:  1979-10       Impact factor: 4.438
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  7 in total

1.  De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Authors:  J E Allanson; R C Hennekam; M Ireland
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene.

Authors:  N G Pasteris; B de Gouyon; A B Cadle; K Campbell; G E Herman; J L Gorski
Journal:  Mamm Genome       Date:  1995-09       Impact factor: 2.957

3.  An unusual suspect causing behavioural problems and pituitary failure in a child.

Authors:  Adam Charles Heathcote; Justin Conrad Rosen Wormald; Richard Stocks
Journal:  BMJ Case Rep       Date:  2012-12-14

4.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995

5.  Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

Authors:  Piero Pavone; Silvia Marino; Antonino Maniaci; Salvatore Cocuzza
Journal:  BMJ Case Rep       Date:  2020-06-30

6.  Atlantoaxial dislocation in a patient with nonsyndromic symmetrical dwarfism: Report of a rare case.

Authors:  Duvuru Ram; Venkatesh S Madhugiri; V R Roopesh Kumar; Reena Gulati; Gopalakrishnan M Sasidharan; Sudheer Kumar Gundamaneni
Journal:  J Craniovertebr Junction Spine       Date:  2015 Jan-Mar

Review 7.  Syndromic disorders with short stature.

Authors:  Zeynep Şıklar; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014
  7 in total

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