Associated Papers
Accuracy of direct mutation testing by TaqMan quantitative polymerase chain reaction for preimplantation genetic diagnosis of recurrent de novo mutations.
Garro D et al.
Fertility and Sterility, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Timberlake AT
Plastic and Reconstructive Surgery, 2023
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J et al.
Nature Reviews. Genetics, 2023
FGF signaling in cranial suture development and related diseases.
Zhao X et al.
Frontiers in Cell and Developmental Biology, 2023
Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.
Chaisrisawadisuk S et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Cassim A et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 2020
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.
Bukowska-Olech E et al.
Scientific Reports, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN et al.
American Journal of Medical Genetics. Part A, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
Rymer K et al.
Molecular Genetics & Genomic Medicine, 2019
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A et al.
Pediatric Research, 2019
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
Apostolopoulou D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018
Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images.
Adel M et al.
Journal of Human Genetics, 2018
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
Saliba S et al.
Prenatal Diagnosis, 2018
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3.
Balek L et al.
Bone, 2017
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
Machado RA et al.
American Journal of Medical Genetics. Part A, 2017
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
Giancotti A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Santani A et al.
Archives of Pathology & Laboratory Medicine, 2017
Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism.
Xiong X et al.
Medicine, 2017
Genetic Homozygosity and Phenotypic Variability in Craniosynostotic Rabbits.
Gilbert JR et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017
Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.
Adel M et al.
Plos One, 2017
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
Katoh M
International Journal of Molecular Medicine, 2016
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
Biamino E et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
Molecular mechanisms of midfacial developmental defects.
Suzuki A et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2016
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L et al.
American Journal of Medical Genetics. Part A, 2015
A Genetic-Pathophysiological Framework for Craniosynostosis.
Twigg SR et al.
American Journal of Human Genetics, 2015
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.
Helsten T et al.
Cancer Metastasis Reviews, 2015
FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.
Karolak MR et al.
Human Molecular Genetics, 2015
Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.
Júnior HM et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015
Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.
Quintela-Fandino M et al.
Molecular Oncology, 2014
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
Bessenyei B et al.
American Journal of Medical Genetics. Part A, 2014
Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.
Su N et al.
Bone Research, 2014
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Fibroblast growth factor receptors, developmental corruption and malignant disease.
Kelleher FC et al.
Carcinogenesis, 2013
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Pandey RK et al.
Indian Journal of Human Genetics, 2013