Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

(2014) Marzena Kucharczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two deletions overlapping a distantFOXF1enhancer unravel the role of lncRNALINC01081in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

(2014) Przemyslaw Szafranski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FOXF1 Transcription Factor Is Required for Formation of Embryonic Vasculature by Regulating VEGF Signaling in Endothelial Cells

(2014) Xiaomeng Ren et al.   CIRCULATION RESEARCH

Break-induced replication: functions and molecular mechanism

(2013) Anna Malkova et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Tissue-Specific lncRNA Fendrr Is an Essential Regulator of Heart and Body Wall Development in the Mouse

(2013) Phillip Grote et al.   DEVELOPMENTAL CELL

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

(2013) Partha Sen et al.   HUMAN MUTATION

Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

(2013) Przemyslaw Szafranski et al.   HUMAN MUTATION

A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus

(2013) David M Levine et al.   NATURE GENETICS

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

Multiple knockout mouse models reveal lincRNAs are required for life and brain development

(2013) Martin Sauvageau et al.   eLife

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

Do regulatory regions matter in FOXG1 duplications?

(2012) Antonio Falace et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

(2012) Carolyn J Ellaway et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Questionable pathogenicity of FOXG1 duplication

(2012) David J Amor et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cytoplasmic mislocalization of overexpressed FOXF1 is associated with the malignancy and metastasis of colorectal adenocarcinomas

(2012) Pang-Kuo Lo et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

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

(2012) P. Szafranski et al.   GENOME RESEARCH

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

(2012) Andy Wing Chun Pang et al.   HUMAN MUTATION

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

(2012) Zhan Su et al.   NATURE GENETICS

Alveolar Capillary Dysplasia

(2011) Naomi B. Bishop et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

Epigenetic Inactivation of the Potential Tumor Suppressor Gene FOXF1 in Breast Cancer

(2010) P.-K. Lo et al.   CANCER RESEARCH

Nuclear Janus-Activated Kinase 2/Nuclear Factor 1-C2 Suppresses Tumorigenesis and Epithelial-to-Mesenchymal Transition by Repressing Forkhead Box F1

(2010) J. Nilsson et al.   CANCER RESEARCH

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

CENP-B preserves genome integrity at replication forks paused by retrotransposon LTR

(2010) Mikel Zaratiegui et al.   NATURE

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

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

Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression

(2009) Ahmad M. Khalil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics