NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

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Cancer genetics and genomics of human FOX family genes

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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

(2012) Partha Sen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

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Mesodermal Pten inactivation leads to alveolar capillary dysplasia-like phenotype

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Alveolar Capillary Dysplasia

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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

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16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

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Haploinsufficiencies ofFOXF1andFOXC2genes associated with lethal alveolar capillary dysplasia and congenital heart disease

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NMD: RNA biology meets human genetic medicine

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The role of phosphorylatable serine residues in the DNA-binding domain of Arabidopsis bZIP transcription factors

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Improved Helix and Kink Characterization in Membrane Proteins Allows Evaluation of Kink Sequence Predictors

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A method and server for predicting damaging missense mutations

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Expression of Angiogenic and Vasculogenic Proteins in the Lung in Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins: An Immunohistochemical Study

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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

(2009) Pamela Nicholson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature

(2009) Charles Shaw-Smith   European Journal of Medical Genetics

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The evolution of Fox genes and their role in development and disease

(2009) Sridhar Hannenhalli et al.   NATURE REVIEWS GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

FoxF1 and FoxL1 Link Hedgehog Signaling and the Control of Epithelial Proliferation in the Developing Stomach and Intestine

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Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: Late presentation of alveolar capillary dysplasia

(2008) Sheikh Ahmed et al.   Pediatric Critical Care Medicine

HOXA13 Is Essential for Placental Vascular Patterning and Labyrinth Endothelial Specification

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