Works matching DE "CAMPOMELIC dysplasia"

Results: 25

Generation of mice with a novel conditional null allele of the Sox9 gene.

Published in:

Biotechnology Letters, 2011, v. 33, n. 8, p. 1551, doi. 10.1007/s10529-011-0608-6

By:

Yap, Sook;
Xing, Xing;
Kraus, Petra;
Sivakamasundari, V.;
Chan, Hsiao;
Lufkin, Thomas

Publication type:

Article

Campomelic dysplasia with dextrocardia and without sexreversal.

Published in:

Archive of Clinical Cases, 2017, v. 4, n. 1, p. 16, doi. 10.22551/2017.14.0401.10088

By:

Păvăloaia, Oana;
Resmeriţă, Irina;
Augustin, Iolanda;
Pânzaru, Monica;
Martiniuc, Violeta;
Păduraru, Luminiţa;
Gorduza, Eusebiu Vlad

Publication type:

Article

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 261, doi. 10.1002/mgg3.282

By:

Bohlen, Anna E.;
Böhm, Johann;
Pop, Ramona;
Johnson, Diana S.;
Tolmie, John;
Stücker, Ralf;
Morris‐Rosendahl, Deborah;
Scherer, Gerd

Publication type:

Article

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 550, doi. 10.1002/mgg3.165

By:

Katoh‐Fukui, Yuko;
Igarashi, Maki;
Nagasaki, Keisuke;
Horikawa, Reiko;
Nagai, Toshiro;
Tsuchiya, Takayoshi;
Suzuki, Erina;
Miyado, Mami;
Hata, Kenichiro;
Nakabayashi, Kazuhiko;
Hayashi, Keiko;
Matsubara, Yoichi;
Baba, Takashi;
Morohashi, Ken‐ichirou;
Igarashi, Arisa;
Ogata, Tsutomu;
Takada, Shuji;
Fukami, Maki

Publication type:

Article

P31.03: Recurrence of campomelic dysplasia in two families.

Published in:

Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 298, doi. 10.1002/uog.12213

By:

Byrne, J. L.;
Woodward, P.;
Kennedy, A.

Publication type:

Article

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Published in:

Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. 3, p. 315, doi. 10.1002/uog.7761

By:

Gentilin, B.;
Forzano, F.;
Bedeschi, M. F.;
Rizzutli, T.;
Faravelli, F.;
Izzi, C.;
Lituania, M.;
Rodriguez-Perez, C.;
Bondioni, M. P.;
Savoldi, G.;
Grossoss, E.;
Botta, G.;
Viora, E.;
Baffico, A. M.;
Lalatta, F.

Publication type:

Article

Patient Reports: Two Novel Frameshift Mutations in the SOX9 Gene in Two Patients with Campomelic Dysplasia who showed Long-Term Survival.

Published in:

2010

By:

Okamoto, Toshio;
Nakamura, Eiki;
Nagaya, Ken;
Hayashi, Tokitsugi;
Mukai, Tokuo;
Fujieda, Kenii

Publication type:

Case Study

Genetic Counseling Through Hope.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 2, p. 205, doi. 10.1007/s10897-011-9442-1

By:

Knutzen, Dana

Publication type:

Article

Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.

Published in:

Tohoku Journal of Experimental Medicine, 2018, v. 245, n. 3, p. 187, doi. 10.1620/tjem.245.187

By:

Kento Morozumi;
Keiko Ainoya;
Jun Takemoto;
Kiyohide Sakai

Publication type:

Article

Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 1, p. 132, doi. 10.1177/1055665621992654

By:

Narimatsu, Kaya;
Iida, Akihiko;
Kobayashi, Takanori

Publication type:

Article

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.

Published in:: Indian Journal of Radiology & Imaging, 2018, v. 28, n. 4, p. 456, doi. 10.4103/ijri.IJRI_173_18
Publication type:: Article

Bowdler spur also found in camptomelic dysplasia.

Published in:

2016

By:

Oestreich, Alan;
Oestreich, Alan E

Publication type:

commentary

Determinants of parental satisfaction with ultrasound hip screening in child health care.

Published in:

Journal of Child Health Care, 2012, v. 16, n. 2, p. 178, doi. 10.1177/1367493511426280

By:

Witting, Marjon;
Boere-Boonekamp, Magda M;
Fleuren, Margot AH;
Sakkers, Ralph JB;
IJzerman, Maarten J

Publication type:

Article

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

Published in:

Türk Pediatri Arşivi, 2014, v. 49, n. 2, p. 154, doi. 10.5152/tpa.2014.1187

By:

Karaer, Kadri;
Yüksel, Zafer;
Yalınbaş, Esin;
Scherer, Gerd

Publication type:

Article

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

Published in:

Annals of Otology, Rhinology & Laryngology, 2024, v. 133, n. 12, p. 1042, doi. 10.1177/00034894241290098

By:

Li, Carol;
Smith, Matthew;
Zak, Sara;
Burg, Gregory;
Rutter, Michael

Publication type:

Article

Campomelic Dysplasia: Airway Management in Two Patients and an Update on Clinical-Molecular Correlations in the Head and Neck.

Published in:

Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 10, p. 682, doi. 10.1177/000348941112001009

By:

Nelson, Marc E.;
Griffin, Garrett R.;
Innis, Jeffrey W.;
Green, Glenn E.

Publication type:

Article

Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.

Published in:

PLoS Genetics, 2017, v. 13, n. 2, p. 1, doi. 10.1371/journal.pgen.1006610

By:

Hall, Michael D.;
Murray, Caroline A.;
Valdez, Michael J.;
Perantoni, Alan O.

Publication type:

Article

p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia.

Published in:

Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 5, p. 1085, doi. 10.1111/jog.12032

By:

Tonni, Gabriele;
Ventura, Alessandro;
Pattacini, Pierpaolo;
Bonasoni, Maria Paola;
Baffico, Ave Maria

Publication type:

Article

Clinical Utility Gene Card for: campomelic dysplasia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.228

By:

Scherer, Gerd;
Zabel, Bernhard;
Nishimura, Gen

Publication type:

Article

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Published in:

Chromosome Research, 2013, v. 21, n. 8, p. 781, doi. 10.1007/s10577-013-9386-4

By:

Smyk, Marta;
Szafranski, Przemyslaw;
Startek, Michał;
Gambin, Anna;
Stankiewicz, Paweł

Publication type:

Article

SOX9 and the many facets of its regulation in the chondrocyte lineage.

Published in:

Connective Tissue Research, 2017, v. 58, n. 1, p. 2, doi. 10.1080/03008207.2016.1183667

By:

Lefebvre, Véronique;
Dvir-Ginzberg, Mona

Publication type:

Article

McCune-Albright syndrome with craniofacial dysplasia: Clinical review and surgical management.

Published in:: Surgical Neurology International, 2016, v. 7, p. 1, doi. 10.4103/2152-7806.178567
Publication type:: Article

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

Published in:

2016

By:

Pasupathy, M.;
Radhakrishnan, Vasant;
Adenwalla, Hirji Sorab;
Narayanan, Puthucode V.

Publication type:

Case Study

Hip dysplasia associated with a hereditary sensorimotor polyneuropathy mimics a myopathic process.

Published in:

2012

By:

Javad Hadianfard, Mohammad;
Ashraf, Alireza

Publication type:

Case Study

Conservative Management of the Bilateral Congenital Dislocation of the Knee: A Case Report.

Published in:

2017

By:

Christmas, M.

Publication type:

Case Study