(Q28275139)

Neil V Morgan

3

0 references

Richard C Trembath

Richard C Trembath

15

0 references

Phillip Cox

Phillip Cox

17

0 references

Eamonn R Maher

Eamonn R Maher

19

0 references

Catherine Fallet-Bianco

16

Catherine Fallet-Bianco

0 references

Shanaz Pasha

5

Shanaz Pasha

0 references

author name string

Esther Meyer

1

0 references

Christopher Ricketts

2

0 references

Mark R Morris

4

0 references

Louise J Tee

6

0 references

Fatimah Rahman

7

0 references

Anne Bazin

8

0 references

Bettina Bessières

9

0 references

Pierre Déchelotte

10

0 references

Mohamed T Yacoubi

11

0 references

Mudher Al-Adnani

12

0 references

Tamas Marton

13

0 references

Denise Williams

American Journal of Human Genetics

18

0 references

language of work or name

English

0 references

publication date

12 March 2010

0 references

published in

0 references

volume

86

0 references

issue

3

0 references

page(s)

471-8

0 references

cites work

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Genome-wide atlas of gene expression in the adult mouse brain

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Identification of a human heme exporter that is essential for erythropoiesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Major facilitator superfamily

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

A heme export protein is required for red blood cell differentiation and iron homeostasis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Identification of a feline leukemia virus variant that can use THTR1, FLVCR1, and FLVCR2 for infection

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Endoglin expression in blood and endothelium is differentially regulated by modular assembly of the Ets/Gata hemangioblast code

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Early ultrasonographic changes in Fowler syndrome features and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Mechanisms of angiogenesis in the brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Fowler-like syndrome with extreme oligohydramnios, growth restriction and without muscular hypoplasia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2833392

Fowler syndrome-a clinical, radiological, and pathological study of 14 cases

27 November 2018

1 reference

12 December 2020

Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings

1 reference

12 December 2020

Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia

1 reference

12 December 2020

A case of recurrent first-trimester Fowler syndrome

1 reference

12 December 2020

Fowler syndrome presenting as a Dandy-Walker malformation: a second case report

1 reference

12 December 2020