Works matching DE "CONNECTIVE tissue disease genetics"

Results: 16

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 3, p. 387, doi. 10.1007/s00431-013-2187-0

By:

Ting, Teck;
Lai, Angeline;
Choo, Jonathan;
Tan, Teng

Publication type:

Article

Novel classification for global gene signature model for predicting severity of systemic sclerosis.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199314

By:

Johnson, Zariel I.;
Conley, Yvette P.;
Yates, Cecelia C.;
Jones, Jacqueline D.;
Mukherjee, Angana;
Ren, Dianxu;
Feghali-Bostwick, Carol

Publication type:

Article

Mutations in ABCC6 cause pseudoxanthoma elasticum.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 228, doi. 10.1038/76109

By:

Bergen, Arthur A.B.;
Plomp, Astrid S.;
Schuurman, Ellen J.;
Terry, Sharon;
Breuning, Martijn;
Dauwerse, Hans;
Swart, Jaap;
Kool, Marcel;
van Soest, Simone;
Baas, Frank;
ten Brink, Jacoline B.;
de Jong, Paulus T.V.M.

Publication type:

Article

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 223, doi. 10.1038/76102

By:

Le Saux, Olivier;
Urban, Zsolt;
Tschuch, Cordula;
Csiszar, Katalin;
Bacchelli, Barbara;
Quaglino, Daniela;
Pasquali-Ronchetti, Ivonne;
Pope, F. Michael;
Richards, Allan;
Terry, Sharon;
Bercovitch, Lionel;
de Paepe, Anne;
Boyd, Charles D.

Publication type:

Article

Emergent airway management in a case of fibrodysplasia ossificans progressiva.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 4, p. 565, doi. 10.4103/0970-9185.142865

By:

Parekh, Uma R.;
Read, Selina;
Desai, Vimal;
Budde, Arne O.

Publication type:

Article

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

Published in:

Nature Reviews Genetics, 2009, v. 10, n. 3, p. 173, doi. 10.1038/nrg2520

By:

Bateman, John F.;
Boot-Handford, Raymond P.;
Lamandé, Shireen R.

Publication type:

Article

Identification of a New Splice Variant of the Human ABCC6 Transporter.

Published in:

Research Letters in Biochemistry, 2008, p. 1, doi. 10.1155/2008/912478

By:

Armentano, Maria Francesca;
Ostuni, Angela;
Infantino, Vittoria;
Iacobazzi, Vito;
Morelli, Maria Antonietta Castiglione;
Bisaccia, Faustino

Publication type:

Article

Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Published in:

Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 532, doi. 10.1111/jvim.14654

By:

Packer, R.A.;
Logan, M.A.;
Guo, L.T.;
Apte, S.S.;
Bader, H.;
O'Brien, D.P.;
Johnson, G.;
Shelton, G.D.

Publication type:

Article

NewABCC6gene mutations in German pseudoxanthoma elasticum patients.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 2, p. 140, doi. 10.1007/s00109-004-0588-2

By:

Hendig, Doris;
Schulz, Veronika;
Eichgrün, Jutta;
Szliska, Christiane;
Götting, Christian;
Kleesiek, Knut

Publication type:

Article

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)

Published in:

FEBS Letters, 2010, v. 584, n. 18, p. 3962, doi. 10.1016/j.febslet.2010.08.001

By:

Bui, Catherine;
Talhaoui, Ibtissam;
Chabel, Matthieu;
Mulliert, Guillermo;
Coughtrie, Michael W.H.;
Ouzzine, Mohamed;
Fournel-Gigleux, Sylvie

Publication type:

Article

Polymorphisms in STAT4 and IRF5 increase the risk of systemic sclerosis: a meta-analysis.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 4, p. 408, doi. 10.1111/ijd.12839

By:

Xu, Yang;
Wang, Wenling;
Tian, Yanli;
Liu, Jingyang;
Yang, Rongya

Publication type:

Article

Intermittent hypoxia activates temporally coordinated transcriptional programs in visceral adipose tissue.

Published in:

Journal of Molecular Medicine, 2012, v. 90, n. 4, p. 435, doi. 10.1007/s00109-011-0830-7

By:

Gharib, Sina;
Khalyfa, Abdelnaby;
Abdelkarim, Amal;
Ramesh, Vijay;
Buazza, Mohamed;
Kaushal, Navita;
Bhushan, Bharat;
Gozal, David

Publication type:

Article

A novel 110-bp insertion in a patient with homocysteinuria.

Published in:

2011

By:

Torun, Didem;
İleri, Talia;
Gündüz, Kaan;
Akar, Nejat

Publication type:

Letter

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5

By:

Ritelli, Marco;
Chiarelli, Nicola;
Dordoni, Chiara;
Reffo, Elena;
Venturini, Marina;
Quinzani, Stefano;
Monica, Matteo Della;
Scarano, Gioacchino;
Santoro, Giuseppe;
Russo, Maria Giovanna;
Calzavara-Pinton, Piergiacomo;
Milanesi, Ornella;
Colombi, Marina

Publication type:

Article

Multi-exon deletions of the FBN1 gene in Marfan syndrome.

Published in:

BMC Medical Genetics, 2001, v. 2, p. 1

By:

Wanguo Liu;
Schrijver, Iris;
Brenn, Thomas;
Furthmayr, Heinz;
Francke, Uta

Publication type:

Article

Shaping Skeletal Growth by Modular Regulatory Elements in the Bmp5 Gene.

Published in:

PLoS Genetics, 2008, v. 4, n. 12, p. 1, doi. 10.1371/journal.pgen.1000308

By:

Guenther, Catherine;
Pantalena-Filho, Luiz;
Kingsley, David M.

Publication type:

Article