Works matching DE "CAMPTODACTYLY"

Results: 50

Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 3, p. 212, doi. 10.1111/j.1460-9592.2008.02891.x

By:

Bonthuis, Dominique;
Morava, Eva;
Booij, Leo H. D. J.;
Driessen, Jacques J.

Publication type:

Article

Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 230, doi. 10.1002/mgg3.364

By:

Yilmaz, Saliha;
Uludağ Alkaya, Dilek;
Kasapçopur, Özgür;
Barut, Kenan;
Akdemir, Ekin S.;
Celen, Cemre;
Youngblood, Mark W.;
Yasuno, Katsuhito;
Bilguvar, Kaya;
Günel, Murat;
Tüysüz, Beyhan

Publication type:

Article

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Published in:

Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0093-5

By:

Peters, Bram;
Schuurs-Hoeijmakers, Janneke H. M.;
Fuijkschot, Joris;
Reimer, Annette;
van der Flier, Michiel;
Lugtenberg, Dorien;
Hoppenreijs, Esther P. A. H.

Publication type:

Article

The Guadalajara-Camptodactyly Syndrome-an unusual case.

Published in:

2011

By:

Khubchandani, R. P.;
Hasija, R. P.;
Dewoolkar, M.

Publication type:

Abstract

Tel Hashomer Camptodactyly Syndrome A Case Report.

Published in:

West Indian Medical Journal, 2013, v. 62, n. 1, p. 81

By:

Shah, K.;
Sreekanth, R.;
Thomas, B.;
Danda, S.

Publication type:

Article

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

Published in:

2017

By:

Hamzeh, abdul Rezzak;
Nair, Pratibha;
Mohamed, Madiha;
Saif, Fatima;
Tawfiq, Nafisa;
Khalifa, Mohamed;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155180

By:

Deng, Hao;
Deng, Sheng;
Xu, Hongbo;
Deng, Han-Xiang;
Chen, Yulan;
Yuan, Lamei;
Deng, Xiong;
Yang, Shengbo;
Guan, Liping;
Zhang, Jianguo;
Yuan, Hong;
Guo, Yi

Publication type:

Article

Blau syndrome.

Published in:

QJM: An International Journal of Medicine, 2011, v. 104, n. 11, p. 997, doi. 10.1093/qjmed/hcq188

By:

Martin, J.;
Kodjikian, L.;
Duquesne, A.;
Le Scanff, J.;
Sève, P.

Publication type:

Article

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 319, doi. 10.1038/15496

By:

Marcelino, Jose;
Carpten, John D.;
Suwairi, Wafaa M.;
Gutierrez, Orlando M.;
Schwartz, Stuart;
Robbins, Christiane;
Sood, Raman;
Makalowska, Izabela;
Baxevanis, Andy;
Johnstone, Brian;
Laxer, Ronald M.;
Zemel, Lawrence;
Kim, Chong Ae;
Herd, J. Kenneth;
Ihle, Johannes;
Williams, Cal;
Johnson, Mark;
Raman, Vidya;
Alonso, Luís Garcia

Publication type:

Article

Pathognomonic acetabular cysts in camptodactyly-arthropathycoxa vara-pericarditis (CACP) syndrome.

Published in:

2016

By:

Vutukuru, Ravindranath;
Mohan Reddy, Kotha Krishna

Publication type:

Case Study

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome.

Published in:

Indian Journal of Medical Research, 2014, v. 140, n. 2, p. 221

By:

Nandagopalan, Rajashree S.;
Phadke, Shubha R.;
Dalal, Ashwin B.;
Ranganath, Prajnya

Publication type:

Article

Reply.

Published in:

Pediatric Radiology, 2004, v. 34, n. 6, p. 513, doi. 10.1007/s00247-004-1181-0

By:

Brune, Thomas;
Schiborr, Manfred;
Maintz, David;
Marquardt, Thorsten;
Frosch, Michael;
Harms, Erik

Publication type:

Article

Camptodactyly: An unsolved area of plastic surgery.

Published in:

2018

By:

Singh, Veena;
Haq, Ansarul;
Priyadarshini, Puja;
Kumar, Purshottam

Publication type:

Case Study

Camptodactyly and Knuckle Pads Coexisting in an Adolescent Boy: Connection or Coincidence?

Published in:

Pediatric Dermatology, 2015, v. 32, n. 3, p. e126, doi. 10.1111/pde.12558

By:

Corbo, Michael D.;
Weinstein, Miriam

Publication type:

Article

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies.

Published in:

Pediatric Dermatology, 2012, v. 29, n. 1, p. 89, doi. 10.1111/j.1525-1470.2011.01403.x

By:

Basel-Vanagaite, Lina;
Sprecher, Eli;
Gat, Andrea;
Merlob, Paul;
Albin-Kaplanski, Adi;
Konen, Osnat;
Solomon, Benjamin D.;
Muenke, Maximilian;
Grzeschik, Karl-H.;
Sirota, Lea

Publication type:

Article

Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus.

Published in:

Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/187571

By:

Sreenivasan, Prathima;
Peedikayil, Faizal C.;
Raj, Sumal V.;
Meundi, Manasa Anand

Publication type:

Article

CAPILAROSCOPIA PERIUNGUEAL EM CRIANÇAS E ADOLESCENTES COM DOENÇAS REUMÁTICAS: UMA REVISÃO DE LITERATURA.

Published in:

Acta Reumatológica Portuguesa, 2008, v. 33, n. 4, p. 395

By:

Petry, Daniela G.;
Terreri, Maria T.;
Len, Cláudio A.;
Hilário, Maria O.

Publication type:

Article

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0355-6

By:

Xingping Guo;
Chunying Song;
Yaping Shi;
Hongxia Li;
Weijing Meng;
Qinzhao Yuan;
Jinjie Xue;
Jun Xie;
Yunxia Liang;
Yanan Yuan;
Baofeng Yu;
Huaixiu Wang;
Yun Chen;
Lixin Qi;
Xinmin Li

Publication type:

Article

Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome.

Published in:

Archives of Gynecology & Obstetrics, 2011, v. 283, p. 27, doi. 10.1007/s00404-010-1703-y

By:

Gupta, Prerna;
Sharma, J.;
Sharma, Raju;
Gadodia, Ankur;
Kumar, Sunesh;
Roy, K.

Publication type:

Article

CAMPTODACTYLIA (LANDOUZY) WITH OTHER NAEVI.

Published in:

British Journal of Dermatology, 1953, v. 65, n. 11, p. 410, doi. 10.1111/j.1365-2133.1953.tb13175.x

By:

Alderson, W. E.

Publication type:

Article

Acute respiratory distress in Pena-Shokeir syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 2004, v. 83, n. 11, p. 772, doi. 10.1177/014556130408301115

By:

Boesen, Peter V.;
French, Christopher E.

Publication type:

Article

A case of Marshall-Smith or Weaver syndrome.

Published in:

Journal of the Royal Society of Medicine, 1989, v. 82, n. 11, p. 682, doi. 10.1177/014107688908201117

By:

Smyth, R. L.;
Gould, J. D. M.;
Baraitser, M.

Publication type:

Article

Epipalpebral conjunctival chondroid choristoma: Interesting developmental anomaly presenting in an adult.

Published in:

2017

By:

Ojha, Pushpanjali R.;
Deshpande, Archana Hemant;
Gargade, Chitrawati Bal;
Nigam, Jitendra Singh

Publication type:

journal article

A rare case of cleft number nine associated with atypical cleft number two.

Published in:

2017

By:

Bubanale, Shivanand Chanabasu;
Kurbet, Santosh B.;
Genoveva De Piedade Sequeira, Linda Maria;
De Piedade Sequeira, Linda Maria Genoveva

Publication type:

journal article

Scoliosis in Gordon's syndrome.

Published in:

2001

By:

Wild, A.;
Schillians, N.;
Kumar, M.;
Mehdian, S. H.

Publication type:

journal article

Freeman-Sheldon syndrome: A case report.

Published in:

Quintessence International, 2003, v. 34, n. 4, p. 307

By:

Aren, Gamze;
Yurdabakan, Zuhal;
Özcan, Ilknur

Publication type:

Article

2q31.1 microdeletion syndrome: case report and literature review.

Published in:

Clinical Case Reports, 2015, v. 3, n. 6, p. 357, doi. 10.1002/ccr3.260

By:

Puvabanditsin, Surasak;
February, Melissa;
Shaik, Tazeem;
Kashyap, Arun;
Bruno, Chantal;
Mehta, Rajeev

Publication type:

Article

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.

Published in:

2010

By:

Herholz, Jana;
Crisponi, Laura;
Mallick, Birendra N.;
Rutsch, Frank

Publication type:

Letter

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 626, doi. 10.3390/ijms18040626

By:

Guoling You;
Bailing Zu;
Bo Wang;
Zhigang Wang;
Yunlan Xu;
Qihua Fu

Publication type:

Article

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Published in:

2018

By:

Zlotina, Anna;
Kiselev, Artem;
Sergushichev, Alexey;
Parmon, Elena;
Kostareva, Anna

Publication type:

Case Study

Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report.

Published in:

2011

By:

Karaman, Ali;
Kahveci, Hasan

Publication type:

Case Study

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 197, doi. 10.1038/ejhg.2013.123

By:

Ciullini Mannurita, Sara;
Vignoli, Marina;
Bianchi, Lucia;
Kondi, Anuela;
Gerloni, Valeria;
Breda, Luciana;
ten Cate, Rebecca;
Alessio, Maria;
Ravelli, Angelo;
Falcini, Fernanda;
Gambineri, Eleonora

Publication type:

Article

Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 265, doi. 10.1038/sj.ejhg.5201957

By:

Malik, Sajid;
Schott, Jörg;
Schiller, Julia;
Junge, Anna;
Baum, Erika;
Koch, Manuela C

Publication type:

Article

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis.

Published in:

2016

By:

Madhusudan, S;
Gupta, A;
Prakash, M;
Matta, D;
Suri, D;
Singh, S

Publication type:

journal article

Finger deformities in Renaissance art.

Published in:

2005

By:

Fras, Christian

Publication type:

commentary

The Renaissance fifth finger.

Published in:

2005

By:

Johnson, Horton A.

Publication type:

Letter

Camptodactyly in a painting by Dirk Bouts (c. 1410-1475).

Published in:

2004

By:

Hijmans, W.;
Dequeker, J.

Publication type:

journal article

The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome.

Published in:

Molecular Imaging & Radionuclide Therapy, 2017, v. 26, n. 1, p. 33, doi. 10.4274/mirt.29484

By:

Al-Mayouf, Sulaiman Mohammed;
Almutairi, Nora;
Alismail, Khalid

Publication type:

Article

Bilateral Camptodactyly in Twin Sisters.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2015, v. 37, n. 2, p. 72, doi. 10.5152/etd.2015.7397

By:

Uçar, Ülkü;
Duruöz, Mehmet Tuncay

Publication type:

Article

Epidemiological study for personal risk factors and quality of life related to Dupuytren's disease in a mountain village of Japan.

Published in:

Journal of Orthopaedic Science, 2014, v. 19, n. 1, p. 64, doi. 10.1007/s00776-013-0478-y

By:

Tajika, Tsuyoshi;
Kobayashi, Tsutomu;
Kaneko, Tetsuya;
Tsunoda, Daisuke;
Tsunoda, Kazuhiko;
Sutou, Takahito;
Yamamoto, Atsushi;
Takagishi, Kenji

Publication type:

Article

Velocardiofacial syndrome presenting as distal arthrogryposis.

Published in:

2004

By:

Devriendt, Koen;
Swillen, Ann;
Gewillig, Marc;
Fryns, Jean-Pierre;
Moens, Pierre;
Smet, Luc De;
De Smet, Luc

Publication type:

journal article

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: Important Differential for Juvenile Idiopathic Arthritis.

Published in:

2013

By:

Ritu Kakkar, Manoj;
Soneji, Sameer;
Badhe, Rashmi R.;
Desai, Shrinivas B.

Publication type:

Case Study

Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia.

Published in:

2015

By:

Kaba, Sultan;
Dogan, Murat;
Bulan, Keziban;
Kocaman, Selami;
Karaman, Serap Kılıç

Publication type:

Case Study

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Published in:

Turkish Journal of Pediatrics, 2015, v. 57, n. 5, p. 684

By:

Taşar, Mehmet;
Eyileten, Zeynep;
Kasımzade, Ferit;
Uçar, Tayfun;
Kendirli, Tanıl;
Uysalel, Adnan

Publication type:

Article

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 6, p. 684

By:

Taşar, Mehmet;
Eyileten, Zeynep;
Kasımzade, Ferit;
Uçar, Tayfun;
Kendirli, Tanil;
Uysalel, Adnan

Publication type:

Article

Balancing tension in transferred slips in some dynamic procedures for claw finger correction.

Published in:

Indian Journal of Plastic Surgery, 2005, v. 38, n. 2, p. 180, doi. 10.4103/0970-0358.19797

By:

Malaviya, G. N.

Publication type:

Article

Le syndrome de la camptodactylie-arthropathie-coxa vara-péricardite : à propos d'un cas.

Published in:

2024

By:

El Mandour, Maria;
Boudhar, El Mehdi;
Hassikou, Hasna

Publication type:

Case Study

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

Published in:

2016

By:

Wijerathne, Buddhika T. B.;
Meier, Robert J.;
Agampodi, Suneth B.

Publication type:

journal article

Ultrasound detection of soft and bony tissues in congenital hand malformations. Examples taken in daily paediatric surgical clinics.

Published in:

2006

By:

Fette, Andreas

Publication type:

journal article

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.

Published in:

2005

By:

Rhee, David K.;
Marcelino, Jose;
Baker, Macarthur;
Gong, Yaoqin;
Smits, Patrick;
Lefebvre, Véronique;
Jay, Gregory D.;
Stewart, Matthew;
Hongwei Wang;
Warman, Matthew L.;
Carpten, John D.;
Lefebvre, Véronique;
Wang, Hongwei

Publication type:

journal article