Literature DB >> 8730288

Syndromes with lissencephaly.

D T Pilz1, O W Quarrell.   

Abstract

Entities:  

Mesh：

Year:  1996        PMID： 8730288      PMCID： PMC1050582          DOI： 10.1136/jmg.33.4.319

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


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  32 in total

1.  Miller-Dieker syndrome: lissencephaly and monosomy 17p.

Authors:  W B Dobyns; R F Stratton; J T Parke; F Greenberg; R L Nussbaum; D H Ledbetter
Journal:  J Pediatr       Date:  1983-04       Impact factor: 4.406

2.  Lissencephaly.

Authors:  M G Norman; M Roberts; J Sirois; L J Tremblay
Journal:  Can J Neurol Sci       Date:  1976-02       Impact factor: 2.104

3.  Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

Authors:  Y Fukuyama; M Osawa; H Suzuki
Journal:  Brain Dev       Date:  1981       Impact factor: 1.961

4.  The prenatal diagnosis of the Walker-Warburg syndrome.

Authors:  C Crowe; M Jassani; L Dickerman
Journal:  Prenat Diagn       Date:  1986 May-Jun       Impact factor: 3.050

Review 5.  The heterogeneity of microphthalmia in the mentally retarded.

Authors:  M Warburg
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

6.  Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.

Authors:  T Toda; M Yoshioka; Y Nakahori; I Kanazawa; Y Nakamura; Y Nakagome
Journal:  Ann Neurol       Date:  1995-01       Impact factor: 10.422

7.  Diagnostic criteria for Walker-Warburg syndrome.

Authors:  W B Dobyns; R A Pagon; D Armstrong; C J Curry; F Greenberg; A Grix; L B Holmes; R Laxova; V V Michels; M Robinow
Journal:  Am J Med Genet       Date:  1989-02

8.  Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold.

Authors:  M Warburg
Journal:  Am J Ophthalmol       Date:  1978-01       Impact factor: 5.258

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

Authors:  W B Dobyns; R F Stratton; F Greenberg
Journal:  Am J Med Genet       Date:  1984-07

10.  A genetic study of the Fukuyama type congenital muscular dystrophy.

Authors:  Y Fukuyama; M Ohsawa
Journal:  Brain Dev       Date:  1984       Impact factor: 1.961
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  7 in total

Review 1.  Recurrence risks in mental retardation.

Authors:  Y J Crow; J L Tolmie
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

2.  Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly.

Authors:  M W Fleck; S Hirotsune; M J Gambello; E Phillips-Tansey; G Suares; R F Mervis; A Wynshaw-Boris; C J McBain
Journal:  J Neurosci       Date:  2000-04-01       Impact factor: 6.167

Review 3.  Fetal Brain Development: Regulating Processes and Related Malformations.

Authors:  Zvi Leibovitz; Tally Lerman-Sagie; Leila Haddad
Journal:  Life (Basel)       Date:  2022-05-29

4.  Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Authors:  N Matsumoto; D T Pilz; J A Fantes; K Kittikamron; D H Ledbetter
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 5.  Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.

Authors:  Sara M Blazejewski; Sarah A Bennison; Trevor H Smith; Kazuhito Toyo-Oka
Journal:  Front Genet       Date:  2018-03-23       Impact factor: 4.599

6.  Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).

Authors:  Himali Jayakody; Sanam Zarei; Huy Nguyen; Joline Dalton; Kelly Chen; Louanne Hudgins; John Day; Kara Withrow; Arti Pandya; Jean Teasley; William B Dobyns; Katherine D Mathews; Steven A Moore
Journal:  J Neuropathol Exp Neurol       Date:  2020-09-01       Impact factor: 3.685

7.  Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs.

Authors:  Valentín Pérez; Aroa Suárez-Vega; Miguel Fuertes; Julio Benavides; Laetitia Delgado; M Carmen Ferreras; Juan José Arranz
Journal:  BMC Vet Res       Date:  2013-08-09       Impact factor: 2.741
  7 in total

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