Literature DB >> 7402813

The MIller-Dieker syndrome.

K L Jones, E F Gilbert, E G Kaveggia, J M Opitz.   

Abstract

Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of patients reported with that disorder. We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome. Other features, such as the craniofacial, neurologic, and growth abnormalities, are more helpful in diagnosing this autosomal recessive disorder.

Entities:  

Mesh:

Year:  1980        PMID: 7402813

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  14 in total

1.  Miller-Dieker syndrome with ring chromosome 17.

Authors:  N Sharief; J Craze; D Summers; L Butler; C B Wood
Journal:  Arch Dis Child       Date:  1991-06       Impact factor: 3.791

2.  Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors:  H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  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

4.  Miller-Dieker syndrome and monosomy 17p13: a new case.

Authors:  A Selypes; A László
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

Review 5.  Microcytogenetics 1984.

Authors:  J de Grouchy; C Turleau
Journal:  Experientia       Date:  1986-10-15

6.  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

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.  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.  Classical lissencephaly syndromes: does the face reflect the brain?

Authors:  J E Allanson; D H Ledbetter; W B Dobyns
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

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