Works matching DE "DIASTROPHIC dwarfism"

Results: 25

MR demonstration of septal involvement in arrhythmogenic right ventricular dysplasia.

Published in:

2005

By:

Malhaire, Caroline;
Garot, Jérôme;
Rahmouni, Alain;
Garot, Jérôme

Publication type:

journal article

Diastrophic dysplasia: prenatal three-dimensional ultrasound findings.

Published in:

Ultrasound in Obstetrics & Gynecology, 2004, v. 23, n. 3, p. 312, doi. 10.1002/uog.988

By:

Sepulveda, W.;
Sepulveda-Swatson, E.;
Sanchez, J.

Publication type:

Article

DIASTROPHIC DWARFISM.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 2, p. 95, doi. 10.1177/000992286500400207

By:

Paul, Sheila Singh;
Rao, P. L.;
Mullick, P.;
Saigal, S.

Publication type:

Article

Health-related quality of life in patients with diastrophic dysplasia: original article.

Published in:

Scandinavian Journal of Public Health, 1999, v. 27, n. 1, p. 38, doi. 10.1177/14034948990270011401

By:

Vaara, Päivi;
Sintonen, Harri;
Peltonen, Jari;
Hokkanen, Hannele;
Poussa, Mikko;
Ryöppy, Soini

Publication type:

Article

Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia.

Published in:

Orthopaedic Surgery, 2014, v. 6, n. 4, p. 274, doi. 10.1111/os.12146

By:

Al Kaissi, Ali;
Kenis, Vladimir;
Melchenko, Eugeniy;
Chehida, Farid Ben;
Ganger, Rudolf;
Klaushofer, Klaus;
Grill, Franz

Publication type:

Article

Protein localization of SLC26A2 (DTDST) in rat kidneys.

Published in:

FASEB Journal, 2007, v. 21, n. 6, p. A1333, doi. 10.1096/fasebj.21.6.a1333-a

By:

Chapman, Jean Marie;
Karniski, Lawrence P.

Publication type:

Article

Manubrium sterni in patients with diastrophic dysplasia – radiological analysis of 50 patients.

Published in:

Pediatric Radiology, 2001, v. 31, n. 8, p. 555, doi. 10.1007/s002470100496

By:

Remes, Ville M.;
Helenius, Ilkka J.;
Marttinen, Eino J.

Publication type:

Article

Double-layered manubrium sterni in young children with diastrophic dysplasia.

Published in:

Pediatric Radiology, 2000, v. 30, n. 6, p. 404, doi. 10.1007/s002470050772

By:

Currarino, G.

Publication type:

Article

A Unique Presentation of Immuno-Osseous Dysplasia.

Published in:

Pediatric Dermatology, 2006, v. 23, n. 4, p. 373, doi. 10.1111/j.1525-1470.2006.00260.x

By:

Hubbard, V.;
Sahota, A.;
Callahan, B.;
Carr, S.;
Paige, D.

Publication type:

Article

Effect of 17β-Estradiol on Diastrophic Dysplasia Sulfate Transporter Activity in Otosclerotic Bone Cell Cultures and SaOS-2 cells.

Published in:

Acta Oto-Laryngologica, 2004, v. 124, n. 8, p. 890, doi. 10.1080/00016480310017081

By:

Imauchi, Yutaka;
Lainé, Pascale;
Sterkers, Olivier;
Ferrary, Evelyne;
Bozorg Grayeli, Alexis

Publication type:

Article

Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).

Published in:

Biochemical Journal, 2016, v. 473, n. 5, p. 615, doi. 10.1042/BJ20151025

By:

Xiaoyun Bai;
Moraes, Trevor F.;
Reithmeier, Reinhart A. F.

Publication type:

Article

Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up.

Published in:

2015

By:

Jasiewicz, Barbara;
Potaczek, Tomasz;
Duda, Sławomir;
Tęsiorowski, Maciej

Publication type:

Case Study

Assignment of solute carrier family 26 (sulfate transporter), member 2 (SLC26a2) to river buffalo (Bubalus bubalis , 2n = 50) chromosome 9q26 (BBU9q26) by fluorescence in situ hybridization and R-banding.

Published in:

Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 202A, doi. 10.1159/000076318

By:

Brenig, B.;
Kierstein, G.;
Iannuzzi, L.;
Silva, A.;
Schneider, M. P.;
Baumgartner, B. G.

Publication type:

Article

Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?

Published in:

European Spine Journal, 2002, v. 11, n. 4, p. 327, doi. 10.1007/s00586-002-0413-y

By:

Remes, Ville M.;
Hästbacka, Johanna R.;
Poussa, Mikko S.;
Peltonen, Jari I.

Publication type:

Article

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 8, p. 764, doi. 10.1007/s10038-008-0305-z

By:

Miyake, Atsushi;
Nishimura, Gen;
Futami, Toru;
Ohashi, Hirofumi;
Chiba, Kazuhiro;
Toyama, Yoshiaki;
Furuichi, Tatsuya;
Ikegawa, Shiro

Publication type:

Article

Noticeboard.

Published in:

Community Practitioner, 2008, v. 81, n. 10, p. 48

By:

Ross, Jan;
Walker, Judith

Publication type:

Article

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia ( rMED).

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 273, doi. 10.1111/cge.12371

By:

Mäkitie, O.;
Geiberger, S.;
Horemuzova, E.;
Hagenäs, L.;
Moström, E.;
Nordenskjöld, M.;
Grigelioniene, G.;
Nordgren, A.

Publication type:

Article

Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 532, doi. 10.1111/cge.12353

By:

Wong, C.K.

Publication type:

Article

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 550, doi. 10.1111/j.1399-0004.2010.01595.x

By:

Barbosa, M;
Sousa, AB;
Medeira, A;
Lourenço, T;
Saraiva, J;
Pinto-Basto, J;
Soares, G;
Fortuna, AM;
Superti-Furga, A;
Mittaz, L;
Reis-Lima, M;
Bonafé, L

Publication type:

Article

Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia.

Published in:

Clinical Genetics, 1999, v. 56, n. 1, p. 71, doi. 10.1034/j.1399-0004.1999.560110.x

By:

Mégarbané, André;
Haddad, Fady A.;
Haddad-Zebouni, Soha;
Achram, Mitri;
Eich, Georg;
Le Merrer, Martine;
Superti-Furga, Andrea

Publication type:

Article

Diastrophic Dysplasia -- Variant.

Published in:

2014

By:

DABAS, AASHIMA;
KHADGAWAT, RAJESH

Publication type:

Case Study

Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three-dimensional ultrasonographic findings.

Published in:

Turkish Journal of Obstetrics & Gynecology, 2021, v. 18, n. 3, p. 258, doi. 10.4274/tjod.galenos.2021.35033

By:

de Souza Lima, Thaísa;
Ghannam Ferreira, Bárbara;
Loureiro Souza, Cindy White;
Carminatti Batista, Isa Beatriz;
Araujo Júnior, Edward;
Galvão Petrini, Caetano;
Carvalho Paschoini, Marina;
Borges Peixoto, Alberto

Publication type:

Article

A family of mammalian anion transporters and their involvement in human genetic diseases.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 10, p. 1883, doi. 10.1093/hmg/8.10.1883

By:

Everett, Lorraine A.;
Green, Eric D.

Publication type:

Article

A mild variant of Desbuquois dysplasia.

Published in:

1999

By:

Nishimura, G.;
Hong, H. S.;
Kawame, H.;
Sato, S.;
Cai, G.;
Ozono, K.

Publication type:

journal article

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 664

By:

Hästbacka, Johanna;
Kerrebrock, Anne;
Mokkala, Kati;
Clines, Gregory;
Lovett, Michael;
Kaitila, Ilkka;
de la Chapelle, Albert;
Lander, Eric S

Publication type:

Article