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Items: 1 to 20 of 48

1.

COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.

Clin Genet. 2019 Dec 3. doi: 10.1111/cge.13683. [Epub ahead of print]

PMID:
31794058
2.

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

Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, Colombi M.

Genes (Basel). 2019 Oct 25;10(11). pii: E843. doi: 10.3390/genes10110843.

3.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.

Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.

PMID:
31564437
4.

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.

Lim PJ, Lindert U, Opitz L, Hausser I, Rohrbach M, Giunta C.

Genes (Basel). 2019 Jul 8;10(7). pii: E517. doi: 10.3390/genes10070517.

5.

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.

Giunta C, Rohrbach M, Fauth C, Baumann M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 May 23.

6.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.

J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25.

PMID:
31129566
7.

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.

Stöberl AS, Gaisl T, Giunta C, Sievi NA, Singer F, Möller A, Rohrbach M, Kohler M.

Respiration. 2019;97(4):284-291. doi: 10.1159/000494328. Epub 2018 Nov 28.

PMID:
30485858
8.

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J.

Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18.

PMID:
30463024
9.

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

Henneton P, Legrand A, Giunta C, Frank M.

BMJ Case Rep. 2018 Jul 6;2018. pii: bcr-2018-224423. doi: 10.1136/bcr-2018-224423.

PMID:
29982180
10.

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.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

11.

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
12.

The Ehlers-Danlos syndromes, rare types.

Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Review.

PMID:
28306225
13.

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.

Gaisl T, Giunta C, Bratton DJ, Sutherland K, Schlatzer C, Sievi N, Franzen D, Cistulli PA, Rohrbach M, Kohler M.

Thorax. 2017 Aug;72(8):729-735. doi: 10.1136/thoraxjnl-2016-209560. Epub 2017 Jan 10.

PMID:
28073822
14.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium, Byers PH, Zschocke J.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

15.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V.

Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.

16.

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F.

Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14.

PMID:
26765342
17.

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC.

Orphanet J Rare Dis. 2015 Nov 11;10:145. doi: 10.1186/s13023-015-0360-4.

18.

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

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

19.

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Lindert U, Kraenzlin M, Campos-Xavier AB, Baumgartner MR, Bonafé L, Giunta C, Rohrbach M.

Orphanet J Rare Dis. 2015 Aug 27;10:104. doi: 10.1186/s13023-015-0315-9.

20.

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

Lindert U, Weis MA, Rai J, Seeliger F, Hausser I, Leeb T, Eyre D, Rohrbach M, Giunta C.

J Biol Chem. 2015 Jul 17;290(29):17679-89. doi: 10.1074/jbc.M115.661025. Epub 2015 May 24.

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