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
Clinical characteristics and genetic findings of Melnick-Needles syndrome due to mutation of FLNA and the genetic counselling challenges experienced: a rare report from a tertiary care centre in South India.
Banik S et al.
Bmj Case Reports, 2025
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
[Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].
Zou J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S et al.
Journal of Human 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
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LMJ et al.
Clinical Dysmorphology, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 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