日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

MESD基因的常染色体隐性突变导致成骨不全

Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval Jr; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Gökhan; Reintjes, Nadine; Altmüller, Janine; Nürnberg, Peter; Cavalcanti, Denise P; Zabel, Bernhard; Warman, Matthew L; Bertola, Debora R; Wollnik, Bernd; Netzer, Christian

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

由新型TNXB变异引起的经典型埃勒斯-当洛斯综合征的临床和分子特征

Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

一项针对17例由FKBP14基因双等位基因突变引起的脊柱侧弯型埃勒斯-当洛斯综合征患者的研究:扩展了临床和突变谱并描述了其自然病程。

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

由CHST14基因突变引起的埃勒斯-当洛斯综合征肌肉挛缩型的表型

Janecke, Andreas R; Li, Ben; Boehm, Manfred; Krabichler, Birgit; Rohrbach, Marianne; Müller, Thomas; Fuchs, Irene; Golas, Gretchen; Katagiri, Yasuhiro; Ziegler, Shira G; Gahl, William A; Wilnai, Yael; Zoppi, Nicoletta; Geller, Herbert M; Giunta, Cecilia; Slavotinek, Anne; Steinmann, Beat

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

尿吡啶啉交联作为成骨不全的生物标志物

Lindert, Uschi; Kraenzlin, Marius; Campos-Xavier, Ana Belinda; Baumgartner, Matthias R; Bonafé, Luisa; Giunta, Cecilia; Rohrbach, Marianne

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

ZNF469基因在脆性角膜综合征(BCS)中经常发生突变,它是一个单外显子基因,可能调控多种细胞外基质成分的表达。

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

外显子组测序发现人类SERPINF1基因存在截断突变,该突变与常染色体隐性成骨不全症相关

Becker, Jutta; Semler, Oliver; Gilissen, Christian; Li, Yun; Bolz, Hanno Jörn; Giunta, Cecilia; Bergmann, Carsten; Rohrbach, Marianne; Koerber, Friederike; Zimmermann, Katharina; de Vries, Petra; Wirth, Brunhilde; Schoenau, Eckhard; Wollnik, Bernd; Veltman, Joris A; Hoischen, Alexander; Netzer, Christian

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

脆性角膜综合征中PRDM5基因的突变揭示了一条调控细胞外基质发育和维持的通路。

Burkitt Wright, Emma M M; Spencer, Helen L; Daly, Sarah B; Manson, Forbes D C; Zeef, Leo A H; Urquhart, Jill; Zoppi, Nicoletta; Bonshek, Richard; Tosounidis, Ioannis; Mohan, Meyyammai; Madden, Colm; Dodds, Annabel; Chandler, Kate E; Banka, Siddharth; Au, Leon; Clayton-Smith, Jill; Khan, Naz; Biesecker, Leslie G; Wilson, Meredith; Rohrbach, Marianne; Colombi, Marina; Giunta, Cecilia; Black, Graeme C M

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

埃勒斯-当洛斯综合征脊柱侧弯型(EDS VIA)的表型变异性:临床、分子和生化特征分析

Rohrbach, Marianne; Vandersteen, Anthony; Yiş, Uluç; Serdaroglu, Gul; Ataman, Esra; Chopra, Maya; Garcia, Sixto; Jones, Kristi; Kariminejad, Ariana; Kraenzlin, Marius; Marcelis, Carlo; Baumgartner, Matthias; Giunta, Cecilia

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

COL3A1、COL5A2 和 MSTN 的半合子缺失会导致主动脉夹层等复杂表型:对真正单倍体不足的启示

Meienberg, Janine; Rohrbach, Marianne; Neuenschwander, Stefan; Spanaus, Katharina; Giunta, Cecilia; Alonso, Sira; Arnold, Eliane; Henggeler, Caroline; Regenass, Stephan; Patrignani, Andrea; Azzarello-Burri, Silvia; Steiner, Bernhard; Nygren, Anders O H; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor