Literature DB >> 7721382

Joubert syndrome with polydactyly and optic coloboma in two sibs.

A S Kher1, A Chattopadhyay, A Divekar, K Khambekar, B A Bharucha.   

Abstract

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Year:  1994        PMID： 7721382     DOI： 10.1007/bf02751991

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


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  7 in total

Review 1.  Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

Authors:  D B van Dorp; A Palan; M L Kwee; P G Barth; J J van der Harten
Journal:  Am J Med Genet       Date:  1991-07-01

2.  Dandy-Walker malformation with postaxial polydactyly: a new syndrome?

Authors:  G Pierquin; J Deroover; S Levi; T Masson; F Hayez-Delatte; N Van Regemorter
Journal:  Am J Med Genet       Date:  1989-08

3.  Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Authors:  M Joubert; J J Eisenring; J P Robb; F Andermann
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

4.  Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

Authors:  A M Laverda; O S Saia; P Drigo; E Danieli; M Clementi; R Tenconi
Journal:  J Pediatr       Date:  1984-08       Impact factor: 4.406

5.  The Joubert syndrome associated with bilateral chorioretinal coloboma.

Authors:  D Lindhout; P G Barth; J Valk; T N Boen-Tan
Journal:  Eur J Pediatr       Date:  1980-08       Impact factor: 3.183

6.  Joubert-Boltshauser syndrome with polydactyly in siblings.

Authors:  J Egger; M H Bellman; E M Ross; M Baraitser
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

7.  Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

Authors:  R L Friede; E Boltshauser
Journal:  Dev Med Child Neurol       Date:  1978-12       Impact factor: 5.449
  7 in total
  3 in total

1.  Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Authors:  Lesley C Keeler; Sarah E Marsh; Esther P Leeflang; Christopher G Woods; László Sztriha; Lihadh Al-Gazali; Aithala Gururaj; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2003-08-13       Impact factor: 11.025

2.  Medical genetics and genomic medicine in India: current status and opportunities ahead.

Authors:  Shagun Aggarwal; Shubha R Phadke
Journal:  Mol Genet Genomic Med       Date:  2015-05       Impact factor: 2.183

Review 3.  Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Authors:  Salma Ben-Salem; Aisha M Al-Shamsi; Joseph G Gleeson; Bassam R Ali; Lihadh Al-Gazali
Journal:  Hum Genome Var       Date:  2014-11-06
  3 in total

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