Works matching DE "BRACHYDACTYLY"

Results: 93

Retinitis pigmentosa, mental retardation, marked short stature,and brachydactyly in two sibs.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 2, p. 127, doi. 10.1076/opge.20.2.127.2289

By:

Lorda-Sanchez, Isabel;
Trujillo, Maria Jose;
Gimenez, Ascensión;
Garcia-Sandoval, Blanca;
Franco, Angeles;
Sanz, Raul;
Rodriguez de Alba, Marta;
Ramos, Carmen;
Ayuso, Carmen

Publication type:

Article

Homozygous variegate porphyria presenting with developmental and language delay in childhood.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 7, p. 737, doi. 10.1111/ced.12071

By:

Pinder, V. A. E.;
Holden, S. T.;
Deshpande, C.;
Siddiqui, A.;
Mellerio, J. E.;
Wraige, E.;
Powell, A. M.

Publication type:

Article

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Published in:

2016

By:

Garavelli, Livia;
Maini, Ilenia;
Baccilieri, Federica;
Ivanovski, Ivan;
Pollazzon, Marzia;
Rosato, Simonetta;
Iughetti, Lorenzo;
Unger, Sheila;
Superti-Furga, Andrea;
Tartaglia, Marco

Publication type:

journal article

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.

Published in:

2003

By:

Olivieri, Carla;
Maraschio, Paola;
Caselli, Desiree;
Martini, Carla;
Beluffi, Giampiero;
Maserati, Emanuela;
Danesino, Cesare

Publication type:

journal article

Multiple Malignant Spiegler Tumors with Brachydactyly and Racket-Nails. Light and Electron Microscopic Study.

Published in:

Journal of Cutaneous Pathology, 1979, v. 6, n. 1, p. 30, doi. 10.1111/j.1600-0560.1979.tb00303.x

By:

Tsambaos, D.;
Greither, A.;
Orfanos, C. E.

Publication type:

Article

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1112, doi. 10.1038/ejhg.2009.18

By:

Byrnes, Ashley M.;
Racacho, Lemuel;
Grimsey, Allison;
Hudgins, Louanne;
Kwan, Andrea C.;
Sangalli, Michel;
Kidd, Alexa;
Yaron, Yuval;
Yu-Lung Lau;
Nikkel, Sarah M.;
Bulman, Dennis E.

Publication type:

Article

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833

By:

Dauwerse, Johannes G;
de Vries, Bert B A;
Wouters, Cokkie H;
Bakker, Egbert;
Rappold, Gudrun;
Mortier, Geert R;
Breuning, Martijn H;
Peters, Dorien J M

Publication type:

Article

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708

By:

Lehmann, Katarina;
Seemann, Petra;
Boergermann, Jan;
Morin, Gilles;
Reif, Silke;
Knaus, Petra;
Mundlos, Stefan

Publication type:

Article

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.

Published in:

BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-19

By:

Yasunari Sakai;
Ryota Souzaki;
Hidetaka Yamamoto;
Yuki Matsushita;
Hazumu Nagata;
Yoshito Ishizaki;
Hiroyuki Torisu;
Yoshinao Oda;
Tomoaki Taguchi;
Shaw, Chad A.;
Toshiro Hara

Publication type:

Article

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal.

Published in:

American Journal of Human Biology, 2013, v. 25, n. 6, p. 743, doi. 10.1002/ajhb.22441

By:

Williams, Kimberly D.;
Blangero, John;
Subedi, Janardan;
Jha, Bharat;
Dyer, Thomas;
Vandeberg, John L.;
Towne, Bradford;
Williams‐Blangero, Sarah

Publication type:

Article

Hypertension linked to PDE3A activation.

Published in:

Nature Genetics, 2015, v. 47, n. 6, p. 562, doi. 10.1038/ng.3316

By:

Houslay, Miles

Publication type:

Article

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Published in:

Nature Genetics, 2015, v. 47, n. 6, p. 647, doi. 10.1038/ng.3302

By:

Maass, Philipp G;
Aydin, Atakan;
Qadri, Fatimunnisa;
Gong, Maolian;
Bähring, Sylvia;
Krawitz, Peter M;
Parkhomchuk, Dmitri;
Mundlos, Stefan;
Hecht, Jochen;
Kann, Martin;
Schuster, Herbert;
Chitayat, David;
Bialer, Martin G;
Wienker, Thomas F;
Ott, Jürg;
Jordan, Jens;
Tank, Jens;
Plessis, Ghislaine;
Luft, Friedrich C;
Mai, Knut

Publication type:

Article

Regulatory rewiring.

Published in:

Nature Genetics, 2015, v. 47, n. 6, p. 568, doi. 10.1038/ng.3329

By:

LaFlamme, Brooke

Publication type:

Article

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Published in:

Nature Genetics, 2001, v. 28, n. 4, p. 386, doi. 10.1038/ng577

By:

Gao, Bo;
Guo, Jingzhi;
She, Chaowen;
Shu, Anli;
Yang, Maosheng;
Tan, Zheng;
Yang, Xinping;
Guo, Shengzhen;
Feng, Guoying;
He, Lin

Publication type:

Article

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Published in:

Nature Genetics, 2000, v. 25, n. 4, p. 419, doi. 10.1038/78107

By:

Afzal, Ali R.;
Rajab, Anna;
Fenske, Christiane D.;
Oldridge, Michael;
Elanko, Navaratnam;
Ternes-Pereira, Eliana;
Tüysüz, Beyhan;
Murday, Victoria A.;
Patton, Michael A.;
Wilkie, Andrew O.M.;
Jeffery, Steve

Publication type:

Article

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Published in:

Nature Genetics, 2000, v. 24, n. 3, p. 275, doi. 10.1038/73495

By:

Oldridge, Michael;
M Fortuna, Ana;
Maringa, Monika;
Propping, Peter;
Mansour, Sahar;
Pollitt, Christine;
DeChiara, Thomas M.;
Kimble, Robert B.;
Valenzuela, David M.;
Yancopoulos, George D.;
Wilkie, Andrew O.M.

Publication type:

Article

Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features.

Published in:

2014

By:

Jiehyun Jeon;
Joo Ha Kim;
Chil Hwan Oh

Publication type:

Case Study

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

Published in:

Cytogenetic & Genome Research, 2015, v. 146, n. 1, p. 33, doi. 10.1159/000431389

By:

Mehraein, Yasmin;
Pfob, Martina;
Steinlein, Ortrud;
aichinger, Eric;
Eggert, Marlene;
Bubendorff, Valerie;
Mannhart, adelina;
Müller, Stefan

Publication type:

Article

Sfrp2 is a transcriptional target of SREBP-1 in mouse chondrogenic cells.

Published in:

Molecular & Cellular Biochemistry, 2015, v. 406, n. 1/2, p. 163, doi. 10.1007/s11010-015-2434-y

By:

Kim, Mi-Jin;
Lee, Wan;
Park, Seung-Yoon;
Kim, Jung-Eun

Publication type:

Article

Identification of Duplication Downstream of <i>BMP2</i> in a Chinese Family with Brachydactyly Type A2 (BDA2).

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094201

By:

Liu, Xudong;
Gao, Linghan;
Zhao, Aman;
Zhang, Rui;
Ji, Baohu;
Wang, Lei;
Zheng, Yonglan;
Zeng, Bingfang;
Valenzuela, Robert K.;
He, Lin;
Ma, Jie

Publication type:

Article

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060105

By:

Fuke, Tomoko;
Mizuno, Seiji;
Nagai, Toshiro;
Hasegawa, Tomonobu;
Horikawa, Reiko;
Miyoshi, Yoko;
Muroya, Koji;
Kondoh, Tatsuro;
Numakura, Chikahiko;
Sato, Seiji;
Nakabayashi, Kazuhiko;
Tayama, Chiharu;
Hata, Kenichiro;
Sano, Shinichiro;
Matsubara, Keiko;
Kagami, Masayo;
Yamazawa, Kazuki;
Ogata, Tsutomu

Publication type:

Article

The Deleted in Brachydactyly B Domain of ROR2 Is Required for Receptor Activation by Recruitment of Src.

Published in:

PLoS ONE, 2008, v. 3, n. 3, p. 1, doi. 10.1371/journal.pone.0001873

By:

Akbarzadeh, Shiva;
Wheldon, Lee M.;
Sweet, Steve M. M.;
Talma, Sonia;
Mardakheh, Faraz Khosravi;
Heath, John K.

Publication type:

Article

Successful treatment with infliximab of refractory rheumatoid arthritis in a male with ‘GDF5 brachydactyly’.

Published in:

2007

By:

Suzuki, Takeshi;
Honda, Zen-ichiro

Publication type:

Letter

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Published in:

Clinical Endocrinology, 2018, v. 88, n. 6, p. 820, doi. 10.1111/cen.13581

By:

Sentchordi‐Montané, Lucía;
Aza‐Carmona, Miriam;
Benito‐Sanz, Sara;
Barreda‐ Bonis, Ana C.;
Sánchez‐Garre, Consuelo;
Prieto‐Matos, Pablo;
Ruiz‐Ocaña, Pablo;
Lechuga‐Sancho, Alfonso;
Carcavilla‐Urquí, Atilano;
Mulero‐Collantes, Inés;
Martos‐Moreno, Gabriel A.;
del Pozo, Angela;
Vallespín, Elena;
Offiah, Amaka;
Parrón‐Pajares, Manuel;
Dinis, Isabel;
Sousa, Sergio B.;
Ros‐Pérez, Purificación;
González‐Casado, Isabel;
Heath, Karen E.

Publication type:

Article

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Published in:

Journal of Human Genetics, 2015, v. 60, n. 8, p. 419, doi. 10.1038/jhg.2015.48

By:

Stange, Katja;
Ott, Claus-Eric;
Schmidt-von Kegler, Mareen;
Gillesen-Kaesbach, Gabriele;
Mundlos, Stefan;
Dathe, Katarina;
Seemann, Petra

Publication type:

Article

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 422, doi. 10.1038/jhg.2009.48

By:

Lv, Dan;
Yang Luo;
Wei Yang;
Lihua Cao;
Yaran Wen;
Xiuli Zhao;
Miao Sun;
Lo, Wilson H.-Y.;
Xue Zhang

Publication type:

Article

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 4, p. 368, doi. 10.1007/s10038-008-0253-7

By:

Wei Yang;
Lihua Cao;
Wenli Liu;
Li Jiang;
Miao Sun;
Dai Zhang;
Shusen Wang;
Wilson H. Y. Lo;
Yang Luo;
Xue Zhang

Publication type:

Article

A novel heterozygous mutation in the Indian hedgehog gene ( IHH) is associated with brachydactyly type A1 in a Chinese family.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 8, p. 727, doi. 10.1007/s10038-006-0012-6

By:

Mugen Liu;
Xu Wang;
Zhou Cai;
Zhaohui Tang;
Kangsheng Cao;
Bo Liang;
Xiang Ren;
Jing Liu;
Qing Wang

Publication type:

Article

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

Published in:

Ophthalmic Genetics, 2004, v. 25, n. 4, p. 277, doi. 10.1080/13816810490902684

By:

Quinn, S. M.;
Black, G. C. M.;
Biswas, S.;
Clayton-Smith, J.;
Lloyd, I. C.

Publication type:

Article

Albright Hereditary Osteodystrophy: A Case Report.

Published in:

2014

By:

HUGAR, DEEPA;
SAJJANSHETTY, SANGAMESHWAR;
HUGAR, SANTOSH;
KADANI, MEGHA

Publication type:

Case Study

Non-Syndromic Occurrence of Multiple Dental and Skeletal Anomalies: A Rare Case Report and Brief Literature Review.

Published in:

2014

By:

PATIL, SANTOSH;
YADAV, NIDHI;
PATIL, PRASHANT

Publication type:

Case Study

Persistent Hemolysis after Laparoscopic Partial Splenectomy in Children.

Published in:

2017

By:

Muncie, Colin;
Berch, Barry;
Blewett, Christopher;
Sawaya, David

Publication type:

journal article

Expanding the clinical and molecular spectrum of <italic>PRMT7</italic> mutations: 3 additional patients and review.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 675, doi. 10.1111/cge.13137

By:

Agolini, E.;
Dentici, M. L.;
Bellacchio, E.;
Alesi, V.;
Radio, F. C.;
Torella, A.;
Musacchia, F.;
Tartaglia, M.;
Dallapiccola, B.;
Nigro, V.;
Digilio, M. C.;
Novelli, A.

Publication type:

Article

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 708, doi. 10.1111/cge.12884

By:

Kernohan, K.D.;
McBride, A.;
Xi, Y.;
Martin, N.;
Schwartzentruber, J.;
Dyment, D.A.;
Majewski, J.;
Blaser, S.;
Boycott, K.M.;
Chitayat, D.

Publication type:

Article

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Published in:

Clinical Genetics, 2014, v. 86, n. 2, p. 142, doi. 10.1111/cge.12241

By:

Weh, E.;
Reis, L.M.;
Tyler, R.C.;
Bick, D.;
Rhead, W.J.;
Wallace, S.;
McGregor, T.L.;
Dills, S.K.;
Chao, M.‐C.;
Murray, J.C.;
Semina, E.V.

Publication type:

Article

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Published in:

Clinical Genetics, 2013, v. 84, n. 6, p. 531, doi. 10.1111/cge.12106

By:

Muhn, F;
Klopocki, E;
Graul-Neumann, L;
Uhrig, S;
Colley, A;
Castori, M;
Lankes, E;
Henn, W;
Gruber-Sedlmayr, U;
Seifert, W;
Horn, D

Publication type:

Article

The brachydactylies: a molecular disease family.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 123, doi. 10.1111/j.1399-0004.2009.01238.x

By:

Mundlos, S.

Publication type:

Article

Dominant versus recessive traits conveyed by allelic mutations – to what extent is nonsense-mediated decay involved?

Published in:

Clinical Genetics, 2009, v. 75, n. 4, p. 394, doi. 10.1111/j.1399-0004.2008.01114.x

By:

Ben-Shachar, S.;
Khajavi, M.;
Withers, M. A.;
Shaw, C. A.;
van Bokhoven, H.;
Brunner, H. G.;
Lupski, J. R.

Publication type:

Article

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter).

Published in:

Clinical Genetics, 2008, v. 74, n. 5, p. 455, doi. 10.1111/j.1399-0004.2008.01064.x

By:

Rump, P.;
Dijkhuizen, T.;
Sikkema-Raddatz, B.;
Lemmink, H. H.;
Vos, Y. J.;
Verheij, J. B. G. M.;
Van Ravenswaaij, C. M. A.

Publication type:

Article

Brachydactyly type B1: report of a family with de novo ROR2 mutation.

Published in:

2006

By:

Hamamy, H.;
Saleh, N.;
Oldridge, M.;
Al-Hadidy, A.;
Ajlounia, K.

Publication type:

Letter

Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

Published in:

Clinical Genetics, 2005, v. 68, n. 2, p. 155, doi. 10.1111/j.1399-0004.2005.00476.x

By:

šinkovec, M.;
Petrovič, D.;
Volk, M.;
Peterlin, B.

Publication type:

Article

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

Published in:

European Journal of Endocrinology, 2023, v. 189, n. 1, p. 123, doi. 10.1093/ejendo/lvad085

By:

Ertl, Diana-Alexandra;
de Nanclares, Guiomar Perez;
Jüppner, Harald;
Hanna, Patrick;
Pagnano, Angela;
Pereda, Arrate;
Rothenbuhler, Anya;
Sindaco, Giulia Del;
Ruiz-Cuevas, Pilar;
Audrain, Christelle;
Escribano, Arancha;
Berkenou, Jugurtha;
Gleiss, Andreas;
Mantovani, Giovanna;
Linglart, Agnès

Publication type:

Article

A misplaced IncRNA causes brachydactyly in humans.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 3990, doi. 10.1172/JCI65508

By:

Maass, Philipp G.;
Rump, Andreas;
Schulz, Herbert;
Stricker, Sigmar;
Schulze, Lisanne;
Platzer, Konrad;
Aydin, Atakan;
Tinschert, Sigrid;
Goldring, Mary B.;
Luft, Friedrich C.;
Bähring, Sylvia

Publication type:

Article

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Published in:

2005

By:

Seemann, Petra;
Schwappacher, Raphaela;
Kjaer, Klaus W.;
Krakow, Deborah;
Lehmann, Katarina;
Dawson, Katherine;
Stricker, Sigmar;
Pohl, Jens;
Plöger, Frank;
Staub, Eike;
Nickel, Joachim;
Sebald, Walter;
Knaus, Petra;
Mundlos, Stefan;
Plöger, Frank

Publication type:

journal article

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.

Published in:

Journal of Clinical Investigation, 2005, v. 115, n. 4, p. 900, doi. 10.1172/JCI200523675

By:

Niedermaier, Michael;
Schwabe, Georg C.;
Fees, Stephan;
Helrnrich, Anne;
Brieske, Norbert;
Seemann, Petra;
Hecht, Jochen;
Seitz, Volkhard;
Stricker, Sigmar;
Leschik, Gundula;
Schrock, Evelin;
Selby, Paul B.;
Mundlos, Stefan

Publication type:

Article

Langer-Giedion syndrome: the evolving imaging features in hands and beyond.

Published in:

Skeletal Radiology, 2014, v. 43, n. 2, p. 251, doi. 10.1007/s00256-013-1726-0

By:

Tsang, Wai;
Yang, Kwok;
Fong, Chi

Publication type:

Article

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Published in:

2017

By:

Eun-Kyung Cho;
Jinsup Kim;
Aram Yang;
Sung Yoon;
Dong-Kyu Jin

Publication type:

Case Study

Poland syndrome: unilateral hypoplastic pectoralis major with brachydactyly.

Published in:

2019

By:

Cataño, Juan Carlos;
Restrepo, Sara

Publication type:

journal article

Brachydactyly E: isolated or as a feature of a syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141

By:

Pereda, Arrate;
Garin, Intza;
Garcia-Barcina, Maria;
Gener, Blanca;
Beristain, Elena;
Ibañez, Ane Miren;
de Nanclares, Guiomar Perez

Publication type:

Article

Brachydactyly.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-15

By:

Temtamy, Samia A.;
Aglan, Mona S.

Publication type:

Article