Search Results - "Elcioglu, N H"

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings by Elçioglu, N H, Vellodi, A, Hall, C M

“…The tubular bones are short with progressive bowing and fractures are a complication. 3- 5 Inheritance is usually autosomal recessive but a large X linked…”
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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

“…Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability…”
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability by Rosin, Nadine, Elcioglu, Nursel H, Beleggia, Filippo, Isgüven, Pinar, Altmüller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Nürnberg, Peter, Wollnik, Bernd, Yigit, Gökhan

“…DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining…”
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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance by Hall, C M, Elcioglu, N H, MacDermot, K D, Offiah, A C, Winter, R M

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A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations by Hall, C M, Elçioglu, N H, Shaw, D G

“…Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital…”
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Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family by Lupi, A, Rossi, A, Campari, E, Pecora, F, Lund, A M, Elcioglu, N H, Gultepe, M, Di Rocco, M, Cetta, G, Forlino, A

“…Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range…”
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Werner syndrome: clinical evaluation of two cases and a novel mutation by Mansur, A T, Elçioglu, N H, Demirci, G T

“…Werner syndrome (WS) is a premature aging disorder, inherited in an autosomal recessive pattern and caused by the mutation in the WRN gene. In this report we…”
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A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D by Elçioglu, N H, Pawlik, B, Colak, B, Beck, M, Wollnik, B

“…A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of…”
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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 by Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat

“…We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and…”
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Diagnostic dilemmas in the short rib-polydactyly syndrome group by Elçioglu, Nursel H., Hall, Christine M.

“…The short rib–polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short…”
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Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene by Elçioglu, N H, Akalin, F, Elçioglu, M, Comeglio, P, Child, A H

“…Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the…”
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus by Alan Lewis, Richard, Rossillion, Béatrice, Holder, Susan, Elcioglu, Nursel H, Davis, Erica E, Vicaire, Serge, Muller, Jean, Hamel, Christian, Leheup, Bruno, Beales, Philip L, Odent, Sylvie, Lacombe, Didier, Amati-Bonneau, Patrizia, Stoetzel, Corinne, Mandel, Jean-Louis, Holder, Muriel, Laurier, Virginie, Sarda, Pierre, Corbani, Sandra, Leitch, Carmen C, Salem, Nabiha, Badano, José L, Sigaudy, Sabine, Bonneau, Dominique, Verloes, Alain, Jalk, Nadine, Silva, Eduardo D, Rix, Suzanne, Chouery, Eliane, Katsanis, Nicholas, Brooks, Alice S, de Ravel, Thomy J L, Poch, Olivier, Dollfus, Hélène, Mégarbané, André

“…Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total…”
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Alkaptonuria caused by compound heterozygote mutations by Elçioğlu, N H, Aytuğ, A F, Müller, C R, Gürbüz, O, Ergun, T, Kotiloğlu, E, Elçioğlu, M

“…Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of "ochronotic pigment" especially in…”
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Novel and recurrent KIND1 mutations in two patients with kindler syndrome and severe mucosal involvement by TÜLIN MANSUR, A, ELCIOGLU, Nursel H, AYDINGÖZ, Ikbal E, DENIZ AKKAYA, A, SERDAR, Zehra Asiran, HERZ, Corinna, BRUCKNER-TUDERMAN, Leena, HAS, Cristina

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Metatropic dysplasia lethal variants by Hall, Christine M, Elçioglu, Nursel H

“…The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlapping features of…”
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Recessive omodysplasia: five new cases and review of the literature by Elçioglu, Nursel H, Gustavson, Karl H, Wilkie, Andrew O M, Yüksel-Apak, Memune, Spranger, Jürgen W

“…Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of…”
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Fraser syndrome: Diagnosed in a 50-year-old museum specimen by Elçioglu, H. Nursel, Berry, A. Caroline

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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance by Hall, C M, Elcioglu, N H, MacDermot, K D, Offiah, A C, Winter, R M

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Fraser syndrome: diagnosed in a 50-year-old museum specimen by Elçioglu, H N, Berry, A C

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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings by Elçioglu, N H, Vellodi, A, Hall, C M

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