Works matching Brachydactyly

Results: 514

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

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

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

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

Prenatal diagnosis of type A1 brachydactyly.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 6, p. 529, doi. 10.1046/j.1469-0705.2001.00428.x

By:

Den Hollander, N. S.;
Hoogeboom, A. J. M.;
Niermeijer, M. F.;
Wladimiroff, J. W.

Publication type:

Article

Concomitance of types D and E brachydactyly: a case report.

Published in:

European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 23, p. 4549

By:

KOCA, T. TÜLAY;
ÖZDEMIR, F. ÇILEDAğ

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 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

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

Heritability of Brachydactyly Type A3 in Children, Adolescents, and Young Adults from an Endogamous Population in Eastern Nepal.

Published in:

Human Biology, 2007, v. 79, n. 6, p. 609, doi. 10.1353/hub.2008.0016

By:

Williams, Kimberly D.;
Blangero, John;
Cottom, Carol R.;
Lawrence, Sharon;
Choh, Audrey C.;
Czerwinski, Stefan A.;
Lee, Miryoung;
Duren, Dana L.;
Sherwood, Richard J.;
Dyer, Thomas D.;
Jha, Bharat;
Subedi, Janardan;
Williams-Blangero, Sarah;
Towne, Bradford

Publication type:

Article

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

Published in:

2005

By:

Castriota-Scanderbeg, Alessandro;
Garaci, Francesco;
Beluffi, Giampiero;
Garaci, Francesco Giuseppe

Publication type:

journal article

Pregnancy after preimplantation genetic diagnosis for brachydactyly type B.

Published in:

2009

By:

Hellani, Ali;
Abu-Amero, Khaled;
Azouri, Joseph;
Al-Sharif, Hadeel;
Barblet, Hamish;
El-Akoum, Siham

Publication type:

Case Study

p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.

Published in:

BMC Genetics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12863-018-0697-5

By:

Shen, Lu;
Ma, Gang;
Shi, Ye;
Ruan, Yunfeng;
Yang, Xuhan;
Wu, Xi;
Xiong, Yuyu;
Wan, Chunling;
Yang, Chao;
Cai, Lei;
Xiong, Likuan;
Gong, Xueli;
He, Lin;
Qin, Shengying

Publication type:

Article

Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.

Published in:

British Journal of Dermatology, 2005, v. 152, n. 6, p. 1339, doi. 10.1111/j.1365-2133.2005.06509.x

By:

Seitz, C. S.;
Hamm, H.

Publication type:

Article

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Published in:

Clinical Genetics, 2002, v. 61, n. 6, p. 454, doi. 10.1034/j.1399-0004.2002.610610.x

By:

Faiyaz-Ul-Haque, M;
Ahmad, W;
Zaidi, SHE;
Haque, S;
Teebi, AS;
Ahmad, M;
Cohn, DH;
Tsui, L-C

Publication type:

Article

Iso-Kikuchi syndrome in a newborn associated with azure lunula and brachydactyly.

Published in:

2015

By:

Krishnegowda, Shilpa Y.;
Kumar, N. Sudhir;
Vasudevan, P.

Publication type:

Case Study

Severe aplastic anaemia in a child with brachydactyly type c.

Published in:

2003

By:

Svarch, Eva;
Fernández, Julio;
Pons, Reinaldo;
González, Alejandro;
Warman, Mathew;
Gale, Robert Peter

Publication type:

Case Study

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

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

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

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

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

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

Autonomic nervous system function in patients with monogenic hypertension and brachydactyly: a field study in north-eastern Turkey.

Published in:

Journal of Human Hypertension, 2001, v. 15, n. 11, p. 787, doi. 10.1038/sj.jhh.1001271

By:

Tank, J;
Toka, O;
Toka, H R;
Jordan, J;
Diedrich, A;
Busjahn, A;
Luft, F C

Publication type:

Article

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38

By:

Racacho, Lemuel;
Byrnes, Ashley M;
MacDonald, Heather;
Dranse, Helen J;
Nikkel, Sarah M;
Allanson, Judith;
Rosser, Elisabeth;
Underhill, T Michael;
Bulman, Dennis E

Publication type:

Article

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240

By:

Villavicencio-Lorini, Pablo;
Klopocki, Eva;
Trimborn, Marc;
Koll, Randi;
Mundlos, Stefan;
Horn, Denise

Publication type:

Article

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230

By:

Leroy, Camille;
Landais, Emilie;
Briault, Sylvain;
David, Albert;
Tassy, Olivier;
Gruchy, Nicolas;
Delobel, Bruno;
Grégoire, Marie-José;
Leheup, Bruno;
Taine, Laurence;
Lacombe, Didier;
Delrue, Marie-Ange;
Toutain, Annick;
Paubel, Agathe;
Mugneret, Francine;
Thauvin-Robinet, Christel;
Arpin, Stéphanie;
Le Caignec, Cedric;
Jonveaux, Philippe;
Beri, Mylène

Publication type:

Article

Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 3, p. 390, doi. 10.1007/s00467-005-2111-6

By:

Derbent, Murat;
Baskın, Esra;
Ağıldere, Muhteşem;
Agras, Pinar;
Saatçi, Ümit

Publication type:

Article

Arterial hypertension with brachydactyly in a 15-year-old boy.

Published in:

Pediatric Nephrology, 2003, v. 18, n. 8, p. 814, doi. 10.1007/s00467-003-1169-2

By:

Litwin, Mieczysław;
Jurkiewicz, Elżbieta;
Nowak, Katarzyna;
Kościesza, Andrzej;
Grenda, Ryszard;
Malczyk, Katarzyna;
Kościesza, Iwona

Publication type:

Article

ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.

Published in:

Clinical Genetics, 2003, v. 64, n. 3, p. 263, doi. 10.1034/j.1399-0004.2003.00139.x

By:

Goodman, Frances

Publication type:

Article

Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.

Published in:

1998

By:

Toka, Hakan R.;
Bähring, Sylvia;
Chitayat, David;
Melby, James C.;
Whitehead, Richard;
Jeschke, Eva;
Wienker, Thomas F.;
Toka, Okan;
Schuster, Herbert;
Luft, Friedrich C.;
Toka, H R;
Bähring, S;
Chitayat, D;
Melby, J C;
Whitehead, R;
Jeschke, E;
Wienker, T F;
Toka, O;
Schuster, H;
Luft, F C

Publication type:

journal article

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

Published in:

Human Genetics, 2013, v. 132, n. 11, p. 1253, doi. 10.1007/s00439-013-1330-3

By:

Farooq, Muhammad;
Nakai, Hiroyuki;
Fujimoto, Atsushi;
Fujikawa, Hiroki;
Kjaer, Klaus;
Baig, Shahid;
Shimomura, Yutaka

Publication type:

Article

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

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

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

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

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

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

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

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

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

EP10.22: Look at the fetal hands: case of brachydactyly.

Published in:

2016

By:

Kaur, L.;
Singh, D.;
Kaur, M.

Publication type:

journal article

A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly.

Published in:

Kidney International, 1998, v. 53, n. 1, p. 167, doi. 10.1046/j.1523-1755.1998.00732.x

By:

Schuster, Herbert;
Toka, Okan;
Toka, Hakan R.;
Busjahn, Andreas;
Oztekin, Ozgur;
Wienker, Thomas F.;
Bilginturan, Nihat;
Bahring, Sylvia;
Skrabal, Falko;
Haller, Hermann;
Luft, Friedrich C.

Publication type:

Article