Search Results - "MORTIER, G. R"

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene by Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner-Eidenböck, A, Rimoin, D L, Siderius, L, Superti-Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R

“…Background: The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine…”
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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia by Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene by Briggs, M.D, Hoffman, S.M.G, King, L.M, Olsen, A.S, Mohrenweiser, H, Leroy, J.G, Mortier, G.R, Rimoin, D.L, Lachman, R.S, Gaines, E.S, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset…”
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The diagnosis of skeletal dysplasias: a multidisciplinary approach by Mortier, Geert R

“…Skeletal dysplasias are heritable connective tissue disorders affecting skeletal morphogenesis and development. They represent a heterogeneous group of genetic…”
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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum by Briggs, Michael D., Mortier, Geert R., Cole, William G., King, Lily M., Golik, Steven S., Bonaventure, Jacky, Nuytinck, Lieve, De Paepe, Anne, Leroy, Jules G., Biesecker, Leslie, Lipson, Mark, Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Knowlton, Robert G., Cohn, Daniel H.

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb…”
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Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? by Cauwels, R. G. E. C., De Coster, P. J., Mortier, G. R., Marks, L. A. M., Martens, L. C.

“…The follow‐up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed…”
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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder by MORTIER, G. R, WEIS, M, NUYTINCK, L, KING, L. M, WILKIN, D. J, DE PAEPE, A, LACHMAN, R. S, RIMOIN, D. L, EYRE, D. R, COHN, D. H

“…Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the…”
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Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome by Lemmerling, Marc M, Vanzieleghem, Bart D, Mortier, Geert R, Dhooge, Ingeborg J, Kunnen, Marc F

“…A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report…”
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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips by Mortier, G R, Kramer, P P G, Giedion, A, Beemer, F A

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia by Briggs, Michael D, Chapman, Kathryn L, Mortier, Geert R, Chapman, Kay, Loughlin, John, Grant, Michael E

“…Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular…”
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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB) by Rees, Mark I., Lewis, Trevor M., Kwok, John B. J., Mortier, Geert R., Govaert, Paul, Snell, Russell G., Schofield, Peter R., Owen, Michael J.

“…Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the α1-subunit…”
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Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician by Weng, E Y, Mortier, G R, Graham, Jr, J M

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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? by Mortier, G R, Messiaen, L M, Espeel, M, Smets, K J, Vanzieleghem, B D, Roels, F, De Paepe, A M

“…We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic…”
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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients by Mäkitie, Outi, Mortier, Geert R., Czarny-Ratajczak, Malwina, Wright, Michael J., Suri, Mohnish, Rogala, Piotr, Freund, Margarida, Jackson, Gail C., Jakkula, Eveliina, Ala-Kokko, Leena, Briggs, Michael D., Cole, William G.

“…Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations…”
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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes by Mortier, G R, Chapman, K, Leroy, J L, Briggs, M D

“…Multiple epiphyseal dysplasia (MED) is a mild chondrodysplasia affecting the structural integrity of cartilage and causing early-onset osteoarthrosis in…”
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Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature by Mortier, Geert R., Lachman, Ralph S., Bocian, Maureen, Rimoin, David L.

“…To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects, we analyzed 26 new patients and…”
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A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer by Mortier, G R, Wilkin, D J, Wilcox, W R, Rimoin, D L, Lachman, R S, Eyre, D R, Cohn, D H

“…The type II collagenopathies form a continuous spectrum of clinical severity, ranging from lethal achondrogenesis type II and hypochondrogenesis, through…”
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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing by Messiaen, L M, Callens, T, Roux, K J, Mortier, G R, De Paepe, A, Abramowicz, M, Pericak-Vance, M A, Vance, J M, Wallace, M R

“…To analyze the spectrum and frequency of NF1 mutations in exon 10b. Mutation and sequence analysis was performed at the DNA and cDNA level. We identified nine…”
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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene by Graham Jr, John M., Braddock, Stephen R., Mortier, Geert R., Lachman, Ralph, Van Dop, Cornelis, Jabs, Ethylin Wang

“…Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20…”
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Imaging studies in the diagnostic workup of neonatal nasal obstruction by VANZIELEGHEM, Bart D, LEMMERLING, Marc M, VERMEERSCH, Hubert F, GOVAERT, Paul, DHOOGE, Ingeborg, MEIRE, Francoise, MORTIER, Geert R, LEROY, Jules, KUNNEN, Marc F

“…Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I:…”
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