Literature DB >> 6876113

Microcephaly and intracranial calcification in two brothers.

M Baraitser, E M Brett, A T Piesowicz.   

Abstract

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Year:  1983        PMID： 6876113      PMCID： PMC1049048          DOI： 10.1136/jmg.20.3.210

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


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  7 in total

1.  Microcephaly with extensive calcium deposits and demyelination.

Authors:  G A JERVIS
Journal:  J Neuropathol Exp Neurol       Date:  1954-04       Impact factor: 3.685

2.  A syndrome resembling progeria: A review of two cases.

Authors:  C A NEILL; M M DINGWALL
Journal:  Arch Dis Child       Date:  1950-09       Impact factor: 3.791

3.  Congenital malformation of the central nervous system associated with genital type (type 2) herpesvirus.

Authors:  M A South; W A Tompkins; C R Morris; W E Rawls
Journal:  J Pediatr       Date:  1969-07       Impact factor: 4.406

4.  Necropsy of original case of Lowry's syndrome.

Authors:  C L Dolman; V J Wright
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

5.  Cockayne's syndrome: case report.

Authors:  L Crome; G C Kanjilal
Journal:  J Neurol Neurosurg Psychiatry       Date:  1971-04       Impact factor: 10.154

6.  Morphological and neurochemical study of Pelizaeus-Merzbacher disease.

Authors:  B Gerstl; N Malamud; R B Hayman; P R Bond
Journal:  J Neurol Neurosurg Psychiatry       Date:  1965-12       Impact factor: 10.154

Review 7.  Cockayne syndrome: unusual neuropathological findings and review of the literature.

Authors:  D Soffer; H W Grotsky; I Rapin; K Suzuki
Journal:  Ann Neurol       Date:  1979-10       Impact factor: 10.422
  7 in total
  6 in total

1.  Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors:  Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

2.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

Authors:  L Mehta; J Q Trounce; J R Moore; I D Young
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

4.  Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.

Authors:  L Rossler; C Ludwig-Seibold; Ch Thiels; J Schaper
Journal:  Pediatr Radiol       Date:  2012-05-26

5.  Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

Authors:  C G Bönnemann; P Meinecke; H Reich
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

6.  A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

Authors:  Iram Sehrish; Tella Sunitha; Avvari Srilekha; Aayushi Gupta; Pratibha Nallari; Ananthapur Venkateshwari
Journal:  J Reprod Infertil       Date:  2022 Apr-Jun
  6 in total

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