Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. (Q33946757)

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English	Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.	scientific article

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15 January 2020

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm (English)

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15 January 2020

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15 January 2020

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Nelson LopezJimenez

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Simon Gerber

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Sonia Mirza

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Kirsten Copren

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Linda Ta

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Anne M Slavotinek

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Gary M Shaw

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15 January 2020

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The small G-proteins Rac1 and Cdc42 are essential for myoblast fusion in the mouse

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Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

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Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

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5 July 2018

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

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5 July 2018

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5 July 2018

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

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5 July 2018

Mutations in TPM3 are a common cause of congenital fiber type disproportion

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5 July 2018

The cell surface receptor FGFRL1 forms constitutive dimers that promote cell adhesion

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5 July 2018

Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm

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5 July 2018

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

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5 July 2018

Genetic factors in congenital diaphragmatic hernia

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5 July 2018

Slit3 regulates cell motility through Rac/Cdc42 activation in lipopolysaccharide-stimulated macrophages

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5 July 2018

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

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5 July 2018

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

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A protein canyon in the FGF-FGF receptor dimer selects from an à la carte menu of heparan sulfate motifs

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Fog2 is required for normal diaphragm and lung development in mice and humans

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5 July 2018

Mechanisms underlying differential responses to FGF signaling

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5 July 2018

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5 July 2018

The role of Rho GTPases in the regulation of the rearrangement of actin cytoskeleton and cell movement

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5 July 2018

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

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5 July 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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5 July 2018

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5 July 2018

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

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5 July 2018

Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues

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5 July 2018

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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5 July 2018

A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3.

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The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein

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Identification of a new fibroblast growth factor receptor, FGFR5

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A novel fibroblast growth factor receptor-5 preferentially expressed in the pancreas(1).

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Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors.

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Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

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Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

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21 January 2018

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An essential role for zebrafish Fgfrl1 during gill cartilage development

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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

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Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development.

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Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

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29 October 2018

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

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29 October 2018

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.

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29 October 2018

Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy

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29 October 2018

Lysyl oxidase is required for vascular and diaphragmatic development in mice

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29 October 2018

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29 October 2018

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29 October 2018

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29 October 2018

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29 October 2018

Structural chromosome anomalies in congenital diaphragmatic hernia

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Two different forms of beta myosin heavy chain are expressed in human striated muscle

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Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

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GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

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Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients

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Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR

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12 December 2020

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Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation

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The Wolf-Hirschhorn syndrome. II. Pathologic anatomy

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12 December 2020

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10.1007/S00439-009-0777-8

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15 January 2020

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15 January 2020

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15 January 2020

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