Bone dysplasias : an atlas of genetic disorders of skeletal development |
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Bone dysplasias / Jürgen W. Spranger [i 5 pozostałych]. - Fourth edition. - New York, © 2018. |
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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome |
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Hypomorphic mutations of TRIP11 cause dontochondrodysplasia |
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Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. |
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In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation |
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Insights from a transgenic mouse model on the role of SLC26A2 in health and disease |
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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome |
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Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation |
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Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210 |
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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene |
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Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications |
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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome |
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections |
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice |
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Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation |
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Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins |
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia |
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Mucolipidosis II presenting as severe neonatal hyperparathyroidism |
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Multiple sulfatase deficiency with neonatal manifestation |
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Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. |
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Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism |
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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders |
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification |
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia |
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Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia |
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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations |
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Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis |
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis |
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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta |
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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia |
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Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia |
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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias |
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Mutations in two regions of FLNB result in atelosteogenesis I and III. |
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Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome |
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development |
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Natural history and life-threatening complications in Myhre syndrome and review of the literature |
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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. |
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News in paediatrics |
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[Next generation sequencing : a diagnostic tool for inherited immune defects]. |
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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges |
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Nosology and classification of genetic skeletal disorders: 2019 revision |
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Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism |
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A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family |
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Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome |
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Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human |
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Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome |
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Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia |
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Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant |
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Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type |
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Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 |
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Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features |
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Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma |
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Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation |
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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia |
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The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. |
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Progressive pseudorheumatoid dysplasia: a rare childhood disease |
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Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 |
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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients |
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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis |
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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution |
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Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. |
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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report |
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Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity |
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Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. |
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Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia |
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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 |
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The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type |
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Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia |
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Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. |
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Spondylo-ocular syndrome: a new entity involving the eye and spine |
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. |
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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1 |
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Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria |
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TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome |
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Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome |
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TRPV4-associated skeletal dysplasias |
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TRPV4-pathy, a novel channelopathy affecting diverse systems |
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Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). |
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zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-[Beta] signaling pathways |
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