Literature DB >> 3901751

Further comments on the lissencephaly syndromes.

W B Dobyns, E F Gilbert, J M Opitz.   

Abstract

Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).

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Mesh:

Year:  1985        PMID: 3901751     DOI: 10.1002/ajmg.1320220119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  14 in total

1.  Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.

Authors:  R M Winter; B N Harding; J Hyde
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

2.  The CT and MR evaluation of migrational disorders of the brain. Part I. Lissencephaly and pachygyria.

Authors:  S E Byrd; R E Osborn; T P Bohan; T P Naidich
Journal:  Pediatr Radiol       Date:  1989

3.  Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.

Authors:  A Mantel; C Leonard; B Husson; N Miladi; M Tardieu; P Landrieu
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

Review 4.  Magnetic resonance imaging of supratentorial congenital brain malformations.

Authors:  S E Byrd
Journal:  J Natl Med Assoc       Date:  1989-08       Impact factor: 1.798

5.  MR and ultrasound findings in a case of cerebro-oculo-muscular-syndrome.

Authors:  B Simma; S Felber; H Maurer; I Gassner; S Krassnitzer
Journal:  Pediatr Radiol       Date:  1990

Review 6.  Genetic factors in lissencephaly syndromes: a review.

Authors:  P Miny; W Holzgreve; J Horst
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

7.  Neuropathology of lissencephalies.

Authors:  K Kuchelmeister; M Bergmann; F Gullotta
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

8.  The clinical and radiological evaluation of lissencephaly.

Authors:  S E Byrd; T P Bohan; R E Osborn
Journal:  J Natl Med Assoc       Date:  1988-12       Impact factor: 1.798

9.  Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

Authors:  P vanTuinen; W B Dobyns; D C Rich; K M Summers; T J Robinson; Y Nakamura; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

10.  Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Authors:  J M Pinard; J Motte; C Chiron; R Brian; E Andermann; O Dulac
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-08       Impact factor: 10.154

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