Associated Papers
FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.
Ordaz-Robles T et al.
American Journal of Medical Genetics. Part A, 2026
Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.
Mugada VK et al.
Prague Medical Report, 2025
Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.
Lu YL et al.
Dna and Cell Biology, 2023
A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.
Zargarbashi R et al.
International Journal of Surgery Case Reports, 2023
Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
Luo X et al.
Molecular Genetics & Genomic Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.
Kim J et al.
Frontiers in Pediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
Iqbal NS et al.
Bmc Medical Genetics, 2020
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Spencer C et al.
American Journal of Medical Genetics. Part A, 2018
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S et al.
Clinical Genetics, 2016
Genomic landscapes of breast fibroepithelial tumors.
Tan J et al.
Nature Genetics, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E et al.
Journal of Medical Genetics, 2015
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
Page RC et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011
Identification of novel nuclear protein interactions with the N-terminal part of filamin A.
Qiu H et al.
Bioscience, Biotechnology, and Biochemistry, 2011
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
Foley C et al.
Molecular Syndromology, 2010
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH et al.
American Journal of Medical Genetics. Part A, 2010
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
Robertson SP et al.
European Journal of Human Genetics : Ejhg, 2006
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.
Feng Y et al.
Nature Cell Biology, 2004
Molecular pathology of filamin A: diverse phenotypes, many functions.
Robertson SP
Clinical Dysmorphology, 2004