Literature DB >> 4555262

Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease.

M Fowler, R Dow, T A White, C H Greer.   

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Year:  1972        PMID： 4555262     DOI： 10.1111/j.1469-8749.1972.tb02575.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  12 in total

1.  Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier.

Authors:  Nicolas Santander; Carlos O Lizama; Eman Meky; Gabriel L McKinsey; Bongnam Jung; Dean Sheppard; Christer Betsholtz; Thomas D Arnold
Journal:  J Clin Invest       Date:  2020-08-03       Impact factor: 14.808

2.  Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Authors:  Esther Meyer; Christopher Ricketts; Neil V Morgan; Mark R Morris; Shanaz Pasha; Louise J Tee; Fatimah Rahman; Anne Bazin; Bettina Bessières; Pierre Déchelotte; Mohamed T Yacoubi; Mudher Al-Adnani; Tamas Marton; David Tannahill; Richard C Trembath; Catherine Fallet-Bianco; Phillip Cox; Denise Williams; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

3.  GPR124, an orphan G protein-coupled receptor, is required for CNS-specific vascularization and establishment of the blood-brain barrier.

Authors:  Mike Cullen; Mohammed K Elzarrad; Steven Seaman; Enrique Zudaire; Janine Stevens; Mi Young Yang; Xiujie Li; Amit Chaudhary; Lihong Xu; Mary Beth Hilton; Daniel Logsdon; Emily Hsiao; Erica V Stein; Frank Cuttitta; Diana C Haines; Kunio Nagashima; Lino Tessarollo; Brad St Croix
Journal:  Proc Natl Acad Sci U S A       Date:  2011-03-18       Impact factor: 11.205

4.  The Fowler syndrome-associated protein FLVCR2 is an importer of heme.

Authors:  Simon P Duffy; Jennifer Shing; Punit Saraon; Lloyd C Berger; Maribeth V Eiden; Andrew Wilde; Chetankumar S Tailor
Journal:  Mol Cell Biol       Date:  2010-09-07       Impact factor: 4.272

5.  Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Authors:  Beth M Kline-Fath; Arnold C Merrow; Maria A Calvo-Garcia; Usha D Nagaraj; Howard M Saal
Journal:  Pediatr Radiol       Date:  2018-03-14

6.  Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Authors:  Nadia A Akawi; Fuat E Canpolat; Susan M White; Josep Quilis-Esquerra; Martin Morales Sanchez; Maria José Gamundi; Ganeshwaran H Mochida; Christopher A Walsh; Bassam R Ali; Lihadh Al-Gazali
Journal:  Hum Mutat       Date:  2013-03       Impact factor: 4.878

7.  Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly.

Authors:  M E Velasco; J A Brown; J Kini; E S Ruppert
Journal:  Childs Nerv Syst       Date:  1993-06       Impact factor: 1.475

8.  A family study of hydrocephalus resulting from aqueduct stenosis.

Authors:  F M Howard; K Till; C O Carter
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

Review 9.  Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes.

Authors:  Deborah Chiabrando; Francesca Vinchi; Veronica Fiorito; Sonia Mercurio; Emanuela Tolosano
Journal:  Front Pharmacol       Date:  2014-04-08       Impact factor: 5.810

10.  Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Authors:  Francesca Clementina Radio; Lavinia Di Meglio; Emanuele Agolini; Emanuele Bellacchio; Martina Rinelli; Paolo Toscano; Renata Boldrini; Antonio Novelli; Aniello Di Meglio; Bruno Dallapiccola
Journal:  Mol Genet Genomic Med       Date:  2018-03-03       Impact factor: 2.183
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