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

[1]  C. Fallet-Bianco,et al.  Fowler syndrome—A clinical, radiological, and pathological study of 14 cases , 2010, American journal of medical genetics. Part A.

[2]  C. Fallet-Bianco,et al.  Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. , 2009, European journal of medical genetics.

[3]  C. Tailor,et al.  Identification of a Feline Leukemia Virus Variant That Can Use THTR1, FLVCR1, and FLVCR2 for Infection , 2009, Journal of Virology.

[4]  D. Beeson,et al.  Germline mutation in DOK7 associated with fetal akinesia deformation sequence , 2009, Journal of Medical Genetics.

[5]  M. Al‐Adnani,et al.  Fowler Syndrome Presenting as a Dandy-Walker Malformation: A Second Case Report , 2009, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[6]  Nicola K. Wilson,et al.  Endoglin expression in blood and endothelium is differentially regulated by modular assembly of the Ets/Gata hemangioblast code. , 2008, Blood.

[7]  D. Seelow,et al.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. , 2008, American journal of human genetics.

[8]  J. Abkowitz,et al.  A Heme Export Protein Is Required for Red Blood Cell Differentiation and Iron Homeostasis , 2008, Science.

[9]  S. Vermeer,et al.  Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. , 2008, American journal of human genetics.

[10]  Allan R. Jones,et al.  Genome-wide atlas of gene expression in the adult mouse brain , 2007, Nature.

[11]  A. Arunkalaivanan,et al.  A case of recurrent first-trimester Fowler syndrome , 2007, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

[12]  P. Robinson,et al.  Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. , 2006, American journal of human genetics.

[13]  Colin A. Johnson,et al.  Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. , 2006, American journal of human genetics.

[14]  C. Tailor,et al.  Comprehensive Mapping of Receptor-Functioning Domains in Feline Leukemia Virus Subgroup C Receptor FLVCR1 , 2006, Journal of Virology.

[15]  I. Usta,et al.  Early ultrasonographic changes in Fowler syndrome features and review of the literature , 2005, Prenatal diagnosis.

[16]  J. Abkowitz,et al.  Identification of a Human Heme Exporter that Is Essential for Erythropoiesis , 2004, Cell.

[17]  M. Cooper,et al.  Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis. , 2004, Experimental cell research.

[18]  A. Halder,et al.  Fowler-like syndrome with extreme oligohydramnios, growth restriction and without muscular hypoplasia. , 2003, Indian pediatrics.

[19]  A. Beaufrère,et al.  First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy) , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[20]  J. Fryns,et al.  Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. , 2002, American journal of medical genetics.

[21]  M. King,et al.  Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus. , 2002, Gene.

[22]  K. Devriendt,et al.  Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. , 2002, American journal of medical genetics.

[23]  M. Castro‐Gago,et al.  Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction , 2001, Journal of child neurology.

[24]  I. Paulsen,et al.  Major Facilitator Superfamily , 1998, Microbiology and Molecular Biology Reviews.

[25]  B. N. Harding,et al.  The familial syndrome of proliferative vasculopathy and hydranencephaly‐hydrocephaly: immunocytochemicaI and uItrastructuraI evidence for endothelial proliferation , 1995, Neuropathology and applied neurobiology.

[26]  A. Hockey,et al.  Proliferative Vasculopathy and an Hydranencephalic‐hydrocephalic Syndrome: a Neuropathological Study of Two Siblings , 1983, Developmental medicine and child neurology.

[27]  M. Fowler,et al.  Congenital Hydrocephalus‐Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease , 1972, Developmental medicine and child neurology.

[28]  Gregor Eichele,et al.  GenePaint.org: an atlas of gene expression patterns in the mouse embryo , 2004, Nucleic Acids Res..

[29]  Mennel Hd,et al.  Mechanisms of angiogenesis in the brain , 2000 .

[30]  M. Norman,et al.  Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia. , 1988, Pediatric Neuroscience.