Literature DB >> 6476009

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

W B Dobyns, R F Stratton, F Greenberg.   

Abstract

Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.

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Year:  1984        PMID： 6476009     DOI： 10.1002/ajmg.1320180320

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


  48 in total

1.  Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study.

Authors:  M J De Rosa; D L Secor; M Barsom; R S Fisher; H V Vinters
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

2.  Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

Authors:  J F De Rijk-van Andel; C E Catsman-Berrevoets; D J Halley; E Wesby-van Swaay; M F Niermeijer; B A Oostra
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 3.  Syndromes with lissencephaly.

Authors:  D T Pilz; O W Quarrell
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

4.  Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors:  C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

5.  Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Authors:  D T Pilz; A Dalton; A Long; T Jaspan; E L Maltby; O W Quarrell
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

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.  Lissencephaly syndromes: clinical aspects.

Authors:  G Kurlemann; G Schuierer; K Kuchelmeister; M Kleine; J Weglage; D G Palm
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

8.  Neuropathology of lissencephalies.

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

9.  TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Authors:  Ravinesh A Kumar; Daniela T Pilz; Timothy D Babatz; Thomas D Cushion; Kirsten Harvey; Maya Topf; Laura Yates; Stephanie Robb; Gökhan Uyanik; Gracia M S Mancini; Mark I Rees; Robert J Harvey; William B Dobyns
Journal:  Hum Mol Genet       Date:  2010-05-12       Impact factor: 6.150

10.  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
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