Works matching DE "DYSOSTOSIS"

Results: 132

Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 2, p. 159, doi. 10.3233/PRM-140285

By:

Stevenson, David A.;
Rudser, Kyle;
Kunin-Batson, Alicia;
Fung, Ellen B.;
Viskochil, David;
Shapiro, Elsa;
Orchard, Paul J.;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

Sialidoses.

Published in:

Epileptic Disorders, 2016, v. 18, p. S89, doi. 10.1684/epd.2016.0845

By:

Franceschetti, Silvana;
Canafoglia, Laura

Publication type:

Article

Tessier number 30.

Published in:

Indian Journal of Plastic Surgery, 2007, v. 40, n. 1, p. 57, doi. 10.4103/0970-0358.32666

By:

Senan, Manesh;
Padmakumar, G.;
Jisha, K. T.

Publication type:

Article

Rigid internal fixation of zygoma fractures: A comparison of two-point and three-point fixation.

Published in:

Indian Journal of Plastic Surgery, 2007, v. 40, n. 1, p. 18

By:

Parashar, Atul;
Sharma, Ramesh K.;
Makkar, Surinder

Publication type:

Article

Atypical femur fractures in a patient with pycnodysostosis: a case report.

Published in:

2015

By:

Hashem, J.;
Krochak, R.;
Culbertson, M.;
Mileto, C.;
Goodman, H.

Publication type:

Report

TARSAL COALITION IN SKELETAL REMAINS OF PAST CZECH POPULATIONS.

Published in:

Anthropologie, 2022, v. 60, n. 2, p. 253, doi. 10.26720/anthro.22.03.21.1

By:

RAČANSKÁ, MICHAELA;
VARGOVÁ, LENKA;
VYMAZALOVÁ, KATEŘINA;
DZETKULIČOVÁ, VERONIKA;
HORÁČKOVÁ, LADISLAVA

Publication type:

Article

A variant or a "new" postaxial acrofacial dysostosis syndrome.

Published in:

2008

By:

Sułko, Jerzy;
Kotulski, Dariusz;
Kozlowski, Kazimierz;
Sułko, Jerzy

Publication type:

journal article

A CASE OF JARCHO-LEVIN SYNDROME ASSOCIATED WITH BILATERAL CYSTIC RENAL DISEASE AND WILMS TUMOR: MR Imaging Findings.

Published in:

Pediatric Hematology & Oncology, 2009, v. 26, n. 7, p. 496, doi. 10.1080/08880010902773263

By:

Inan, Nagihan;
Corapcioglu, Funda;
Akansel, Gur;
Yildiz, Kursat;
Ozdamar, A. Sıtkı;
Mutlu, Ajda

Publication type:

Article

TREACHER COLLINS SYNDROME.

Published in:

Guident, 2018, v. 11, n. 1, p. 70

By:

Verma, Priya

Publication type:

Article

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Published in:

2019

By:

Kuiper, Gé-Ann;
Langereis, Eveline J.;
Breyer, Sandra;
Carbone, Marco;
Castelein, René M.;
Eastwood, Deborah M.;
Garin, Christophe;
Guffon, Nathalie;
van Hasselt, Peter M.;
Hensman, Pauline;
Jones, Simon A.;
Kenis, Vladimir;
Kruyt, Moyo;
van der Lee, Johanna H.;
Mackenzie, William G.;
Orchard, Paul J.;
Oxborrow, Neil;
Parini, Rossella;
Robinson, Amy;
Schubert Hjalmarsson, Elke

Publication type:

journal article

Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”.

Published in:

2000

By:

van den Boogaard, Marie-José H.

Publication type:

Correction Notice

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.

Published in:: Turkish Journal of Pediatrics, 2010, v. 52, n. 5, p. 443
Publication type:: Article

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

Published in:

Fetal & Pediatric Pathology, 2015, v. 34, n. 5, p. 287, doi. 10.3109/15513815.2015.1068414

By:

Toru, Havva Serap;
Nur, Banu Guzel;
Sanhal, Cem Yasar;
Mihci, Ercan;
Mendilcioğlu, İnanç;
Yilmaz, Elanur;
Yilmaz, Gulden Tasova;
Ozbudak, Irem Hicran;
Karaali, Kamil;
Alper, Ozgul M.;
Karaveli, Fatma Şeyda

Publication type:

Article

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.

Published in:

Indian Journal of Medical Research, 2014, v. 140, n. 1, p. 55

By:

Kotecha, Udhaya H.;
Movva, Sireesha;
Sharma, Deepak;
Verma, Jyotsna;
Puri, Ratna Dua;
Verma, Ishwar Chander

Publication type:

Article

Mapping of a further locus for X-linked craniofrontonasal syndrome.

Published in:

Cytogenetic & Genome Research, 2002, v. 99, n. 1-4, p. 285, doi. 10.1159/000071605

By:

Wieland, I.;
Jakubiczka, S.;
Muschke, P.;
Wolf, A.;
Gerlach, L.;
Krawczak, M.;
Wieacker, P.

Publication type:

Article

Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.

Published in:

2005

By:

Del Río Holgado, María;
Martínez, Josep M.;
Gömez, Olga;
Casals, Gemma;
Bargalló, Nuria;
Fortuny, Albert;
Puerto, Bienvenido;
del Río Holgado, María;
Martínez, Josep M;
Gómez, Olga;
Bargalló, Nuria

Publication type:

journal article

The divergent DSL ligand DII3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands.

Published in:

Journal of Cell Biology, 2005, v. 170, n. 6, p. 983, doi. 10.1083/jcb.200503113

By:

Ladi, Ena;
Nichols, James T.;
Weihong Ge;
Miyamoto, Alison;
Yao, Christine;
Liang-Tung Yang;
Boulter, Jim;
Sun, Yi E.;
Kintner, Chris;
Weinmaster, Gerry

Publication type:

Article

Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.

Published in:

2018

By:

Southam, Brendan R.;
Schumaier, Adam P.;
Crawford, Alvin H.

Publication type:

Case Study

Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome.

Published in:

Case Reports in Orthopedics, 2017, p. 1, doi. 10.1155/2017/8263536

By:

Almasri, Mahmoud;
Kishta, Waleed;
Abduljabbar, Fahad H.;
Arlet, Vincent;
Saran, Neil;
Oullet, Jean

Publication type:

Article

Orthodontic management of non-syndromic multiple supernumerary teeth.

Published in:

Contemporary Clinical Dentistry, 2013, v. 4, n. 4, p. 540, doi. 10.4103/0976-237X.123068

By:

SINGHVI, VIJAY;
NAMBIAR, SUPRIYA;
SHETTY, SIDDART H.

Publication type:

Article

Familial Crouzon syndrome.

Published in:

2010

By:

SAMATHA, Y.;
VARDHAN, T. HARSHA;
KIRAN, A. RAVI;
SAI SANKAR, A. J.;
RAMAKRISHNA, B.

Publication type:

Case Study

A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol.

Published in:

Journal of Pharmacy & Bioallied Sciences, 2015, v. 7, p. S428, doi. 10.4103/0975-7406.163490

By:

Arun Paul, S.;
Sibu Simon, S.;
Kaneesh Karthik, A.;
Chacko, Rabin K.;
Savitha, S.

Publication type:

Article

Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0134527

By:

Abe, Koichiro;
Takamatsu, Nobuhiko;
Ishikawa, Kumiko;
Tsurumi, Toshiko;
Tanimoto, Sho;
Sakurai, Yukina;
Lisse, Thomas S.;
Imai, Kenji;
Serikawa, Tadao;
Mashimo, Tomoji

Publication type:

Article

Deletion in the <i>EVC2</i> Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094861

By:

Murgiano, Leonardo;
Jagannathan, Vidhya;
Benazzi, Cinzia;
Bolcato, Marilena;
Brunetti, Barbara;
Muscatello, Luisa Vera;
Dittmer, Keren;
Piffer, Christian;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

The Management of ADHD and Associated Problems in a Young Person with Cleidocranial Dysostosis (CCD) and Mild Intellectual Disability.

Published in:

Clinical Child Psychology & Psychiatry, 2006, v. 11, n. 3, p. 445, doi. 10.1177/1359104506059127

By:

McBrien, Hamilton;
Turk, Jeremy;
Letch, Nicole

Publication type:

Article

Bilateral Bimaxillary Bi-Rooted Primary Canines: Report of a Case.

Published in:

2009

By:

Dhanpal, Prashanth K.;
King, Nigel M.

Publication type:

Case Study

Supervivencia prolongada en el síndrome de Casamassima-Morton-Nance. Reporte de caso y revisión de la literatura.

Published in:

2015

By:

Huerta-Uribe, Nidia;
Villarroel-Cortés, Camilo

Publication type:

Case Study

Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.

Published in:

2016

By:

SALINAS-TORRES, VICTOR M.

Publication type:

Case Study

Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.

Published in:

Journal of Orthopaedic Science, 2015, v. 20, n. 2, p. 430, doi. 10.1007/s00776-013-0452-8

By:

Cao, Kai;
Watanabe, Kota;
Hosogane, Naobumi;
Toyama, Yoshiaki;
Matsumoto, Morio

Publication type:

Article

Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.

Published in:

Child's Nervous System, 2013, v. 29, n. 7, p. 1051, doi. 10.1007/s00381-013-2057-0

By:

Aalst, J.;
Vles, J.;
Cuppen, I.;
Sival, D.;
Niks, E.;
Rhijn, L.;
Steensel, M.;
Cornips, E.

Publication type:

Article

What Syndrome Is This?

Published in:

Pediatric Dermatology, 1996, v. 13, n. 3, p. 255, doi. 10.1111/j.1525-1470.1996.tb01215.x

By:

Amichai, Boaz;
Finkelstein, Eve;
Grunebaum, Michael;
Metzker, Aryeh

Publication type:

Article

Crouzon Disease with Acanthosis Nigricans and Melanocytic Nevi.

Published in:

Pediatric Dermatology, 1996, v. 13, n. 1, p. 18, doi. 10.1111/j.1525-1470.1996.tb01180.x

By:

Ginés, Elena;
Rodriguez-Pichardo, Antonio;
Jorquera, Enrique;
Moreno, Jose Carlos;
Camacho, Francisco

Publication type:

Article

Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 7, p. 581, doi. 10.1007/s10038-006-0401-x

By:

Ikegawa, Shiro

Publication type:

Article

Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report.

Published in:

Bone Marrow Transplantation, 2003, v. 32, n. 9, p. 957, doi. 10.1038/sj.bmt.1704249

By:

Grewal, S;
Shapiro, E;
Braunlin, E;
Charnas, L;
Krivit, W;
Orchard, P;
Peters, C

Publication type:

Article

T-cell-depleted peripheral blood stem cell transplantation for a-mannosidosis.

Published in:

Bone Marrow Transplantation, 2003, v. 32, n. 4, p. 443, doi. 10.1038/sj.bmt.1704148

By:

Albert, M H;
Schuster, F;
Peters, C;
Schulze, S;
Pontz, B F;
Muntau, A C;
Röschinger, W;
Stachel, D K;
Enders, A;
Haas, R J;
Schmid, I

Publication type:

Article

Cleidocranial dysostosis syndrome with associated chilblains and Raynaud's phenomenon.

Published in:

1979

By:

Harrison, Philip V.

Publication type:

Case Study

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.

Published in:

Clinical Genetics, 2017, v. 91, n. 6, p. 908, doi. 10.1111/cge.12918

By:

Lefebvre, M.;
Duffourd, Y.;
Jouan, T.;
Poe, C.;
Jean‐Marçais, N.;
Verloes, A.;
St‐Onge, J.;
Riviere, J.‐B.;
Petit, F.;
Pierquin, G.;
Demeer, B.;
Callier, P.;
Thauvin‐Robinet, C.;
Faivre, L.;
Thevenon, J.

Publication type:

Article

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 270, doi. 10.1111/cge.12721

By:

Twigg, S.R.F.;
Ousager, L.B.;
Miller, K.A.;
Zhou, Y.;
Elalaoui, S.C.;
Sefiani, A.;
Bak, G.S;
Hove, H.;
Hansen, L.K.;
Fagerberg, C.R.;
Tajir, M.;
Wilkie, A.O.M.

Publication type:

Article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 246, doi. 10.1111/cge.12259

By:

Petit, F.;
Escande, F.;
Jourdain, A.S.;
Porchet, N.;
Amiel, J.;
Doray, B.;
Delrue, M.A.;
Flori, E.;
Kim, C.A.;
Marlin, S.;
Robertson, S.P.;
Manouvrier‐Hanu, S.;
Holder‐Espinasse, M.

Publication type:

Article

Whole-exome sequencing expands the phenotype of Hunter syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 2, p. 172, doi. 10.1111/cge.12236

By:

Nikkel, S.M.;
Huang, L.;
Lachman, R.;
Beaulieu, C.L.;
Schwartzentruber, J.;
Majewski, J.;
Geraghty, M.T.;
Boycott, K.M.

Publication type:

Article

Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? Zhang et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 570, doi. 10.1111/j.1399-0004.2010.01427.x

By:

Zhang, Y.;
Yong Dai;
Liu, Y.;
Ren, J.

Publication type:

Article

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01379.x

By:

Hofer, D.;
Paul, K.;
Fantur, K.;
Beck, M.;
Roubergue, A.;
Vellodi, A.;
Poorthuis, B. J.;
Michelakakis, H.;
Plecko, B.;
Paschke, E.

Publication type:

Article

Alpha-fucosidosis - Two brothers presenting with dysostosis multiplex.

Published in:

Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 243, doi. 10.1016/j.ejmhg.2015.11.004

By:

Shaukat, Rimshah;
Raza, Syed Musa;
Yuns, Zabedah Md.;
Omar, Affandi;
Afroze, Bushra

Publication type:

Article

Gorlin-Goltz syndrome.

Published in:

Dental Research Journal, 2012, v. 9, n. 1, p. 100, doi. 10.4103/1735-3327.92963

By:

Joshi, Priya Shirish;
Deshmukh, Vijay;
Golgire, Someshwar

Publication type:

Article

Sequential Supernumerary Teeth Development in a Non-Syndromic Patient; Report of a Rare Case.

Published in:

2013

By:

Mohammad Jafarian;
Nazemi, Bahareh;
Bargrizan, Majid;
Ramezani, Jamileh;
Ansari, Ghassem

Publication type:

Case Study

The Continuity of Mandibular Form in Mandibulofacial Dysostosis.

Published in:

Journal of Dental Research, 1982, v. 61, n. 11, p. 1240, doi. 10.1177/00220345820610110601

By:

BEHRENTS, R. G.

Publication type:

Article

Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia.

Published in:

Journal of Genetics, 2015, v. 94, n. 3, p. 551, doi. 10.1007/s12041-015-0551-8

By:

WU, LI-ZHENG;
XU, XIN-YUE;
LIU, YING-FENG;
GE, XIN;
WANG, XIAO-JING

Publication type:

Article

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

Published in:

PLoS Genetics, 2016, v. 12, n. 9, p. 1, doi. 10.1371/journal.pgen.1006307

By:

Marques, Felipe;
Tenney, Jessica;
Duran, Ivan;
Martin, Jorge;
Nevarez, Lisette;
Pogue, Robert;
Krakow, Deborah;
Cohn, Daniel H.;
Li, Bing

Publication type:

Article

A Case of Cleidocranial Dysostosis: Dilemma for a Prosthodontist.

Published in:

Journal of Indian Prosthodontic Society, 2012, v. 12, n. 4, p. 252, doi. 10.1007/s13191-012-0135-8

By:

Tripathi, Shuchi;
Singh, Raghuwar;
Singh, Saumyendra;
Chand, Pooran

Publication type:

Article

The developmental spectrum of proximal radioulnar synostosis.

Published in:

Skeletal Radiology, 2010, v. 39, n. 1, p. 49

By:

Lisa Kibria

Publication type:

Article