Works matching DE "ARTHROGRYPOSIS"

Results: 519

Congenital Dislocation of The Knee.

Published in:

European Journal of Cardiovascular Medicine, 2025, v. 15, n. 4, p. 281

By:

Bhukya, Likhitha;
Gautam, Vineeta

Publication type:

Article

Perioperative care of the child with arthrogryposis.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 1, p. 31, doi. 10.1111/j.1460-9592.2005.01676.x

By:

Martin, Sam;
Tobias, Joseph D.

Publication type:

Article

Liver biopsy complicated by hemorrhage in a patient with ARC syndrome.

Published in:

Pediatric Anesthesia, 2004, v. 14, n. 11, p. 960, doi. 10.1111/j.1460-9592.2004.01301.x

By:

Hayes, Jason A.;
Kahr, Walter H.A.;
Lo, Bryan;
Macpherson, Bruce A.

Publication type:

Article

Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report.

Published in:

Journal of Prosthodontics (John Wiley & Sons, Inc.), 2018, v. 27, n. 3, p. 299, doi. 10.1111/jopr.12664

By:

Mahrous, Ahmed;
Thalji, Ghadeer

Publication type:

Article

Adhesive capsulitis of the shoulder: evaluation with MR arthrography.

Published in:

European Radiology, 2006, v. 16, n. 4, p. 791, doi. 10.1007/s00330-005-0020-5

By:

Joon-Yong Jung;
Won-Hee Jee;
Ho Chun;
Yang-Soo Kim;
Yang Chung;
Jung-Man Kim

Publication type:

Article

Wrist arthrography: a simple method.

Published in:

2006

By:

Berná-Serna, Juan D.;
Martínez, Francisco;
Reus, Manuel;
Alonso, Jose;
Domenech-Ratto, Ginés;
Berná-Serna, Juan D;
Martínez, Francisco;
Domenech-Ratto, Ginés

Publication type:

journal article

Low-field MR arthrography of the shoulder joint: technique, indications, and clinical results.

Published in:

2003

By:

Kreitner, K.-F.;
Loew, R.;
Runkel, M.;
Zöllner, J.;
Thelen, M.;
Zöllner, J

Publication type:

journal article

Zika virus infection in children: epidemiology and clinical manifestations.

Published in:

Child's Nervous System, 2018, v. 34, n. 1, p. 63, doi. 10.1007/s00381-017-3635-3

By:

da Silva Pone, Marcos Vinicius;
Moura Pone, Sheila;
Araujo Zin, Andrea;
Barros Mendes, Pedro Henrique;
Senra Aibe, Mitsue;
Barroso de Aguiar, Elisa;
de Oliveira Gomes da Silva, Tallita

Publication type:

Article

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae330

By:

Watts, Laura M;
Bunyan, David J;
Giacopuzzi, Edoardo;
Walker, Susan;
Gazdagh, Gabriella;
Thomas, N Simon;
Straub, Volker;
Childs, Anne-Marie;
Forsyth, Joan;
Vogt, Julie;
Khan, Shagufta;
Willis, Tracey A;
Taylor, Jenny C;
Pagnamenta, Alistair T

Publication type:

Article

Dominant Form of Arthrogryposis Multiplex Congenita with Limited Mouth Opening: A Clinical and Imaging Study.

Published in:

Journal of Orofacial Pain, 2005, v. 19, n. 1, p. 82

By:

Guimarães, Antonio Sergio;
Marie, Suely Kazue Nagahashi

Publication type:

Article

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2153

By:

Ahangari, Najmeh;
Gholampour‐Faroji, Nazanin;
Doosti, Mohammad;
Ghayour Mobarhan, Majid;
Shahrokhzadeh, Sima;
Karimiani, Ehsan Ghayoor;
Hasani‐sabzevar, Bahareh;
Torbati, Paria Najarzadeh;
Haddad‐Mashadrizeh, Aliakbar

Publication type:

Article

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.

Published in:

2022

By:

Li, Yue;
Nong, Tianying;
Li, Yiqiang;
Li, Xia;
Li, Zhaohui;
Lv, Hui;
Xu, Hongwen;
Li, Jingchun;
Zhu, Mingwei

Publication type:

Case Study

Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.

Published in:

Experimental Dermatology, 2022, v. 31, n. 5, p. 648, doi. 10.1111/exd.14537

By:

Arowolo, Afolake;
Rhoda, Cenza;
Khumalo, Nonhlanhla

Publication type:

Article

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 6, p. 581, doi. 10.5223/pghn.2019.22.6.581

By:

Min Ju Lee;
Chae Ri Suh;
Jeong Hee Shin;
Jee Hyun Lee;
Yoon Lee;
Baik-Lin Eun;
Kee Hwan Yoo;
Jung Ok Shim

Publication type:

Article

EP07.04: Prenatal diagnosis of arthrogryposis multiplex congenital.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 290, doi. 10.1002/uog.18430

By:

Nagayasu, Y.

Publication type:

Article

OP07.09: Fetal akinesia deformation sequence: is motor assessment of additional value for in utero diagnosis? A ten-year cohort study.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 69, doi. 10.1002/uog.17758

By:

Tjon, J.;
de Vries, J.I.;
van der Knoop, B.

Publication type:

Article

P07.06: The use of 3D and 4D ultrasound in a case of distal arthrogryposis.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 139, doi. 10.1002/uog.13003

By:

Wong, H.

Publication type:

Article

P09.22: Congenital arthrogryposis: report of recurrency.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 204, doi. 10.1002/uog.9746

By:

Oliveira, R. S.;
Bezerra, A. M.;
Drummond, C. L.;
Zitron, L. R.;
Cordioli, E.

Publication type:

Article

OP13.12: Arthrogryposis: 5-year review of cases at a large UK teaching Hospital.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 354, doi. 10.1002/uog.5754

By:

Navti, O.;
Kinning, E.;
Khare, M.;
Howarth, E.;
Barrow, M.;
Vasudevan, P.

Publication type:

Article

Early sonographic prenatal diagnosis of seizures.

Published in:

2007

By:

Sheizaf, B.;
Mazor, M.;
Landau, D.;
Burstein, E.;
Bashir, A.;
Hershkovitz, R.;
Bashiri, A

Publication type:

journal article

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

Published in:

2006

By:

Sanseverino, M. T. V.;
De Souza, C. F. M.;
Gissen, P.;
Sordi, A. O.;
Magalhães, J. A.;
Schüler-Faccini, L.

Publication type:

Letter

Pena–Shokeir phenotype with variable onset in three consecutive pregnancies.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 2, p. 163, doi. 10.1046/j.1469-0705.2001.00246.x

By:

Paladini, D.;
Tartaglione, A.;
Agangi, A.;
Foglia, S.;
Martinelli, P.;
Nappi, C.

Publication type:

Article

Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70).

Published in:

Annals of Rehabilitation Medicine, 2020, v. 44, n. 5, p. 409, doi. 10.5535/arm.20110

By:

Poling, Mikaela I.;
Dufresne, Craig R.

Publication type:

Article

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency.

Published in:

Annals of Rehabilitation Medicine, 2020, v. 44, n. 2, p. 165, doi. 10.5535/arm.2020.44.2.165

By:

Jihyun Park;
Seong-Woong Kang;
Won Ah Choi;
Yewon Lee;
Han Eol Cho

Publication type:

Article

Scalp Defects in Trisomy 13.

Published in:

Clinical Pediatrics, 1969, v. 8, n. 7, p. 416, doi. 10.1177/000992286900800718

By:

Abuelo, Dianne;
Feingold, Murray

Publication type:

Article

Arthrogryposis Multiplex Congenita Case Report of Two Siblings.

Published in:

Clinical Pediatrics, 1968, v. 7, n. 11, p. 691, doi. 10.1177/000992286800701112

By:

Srivastava, R.N.

Publication type:

Article

A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis.

Published in:

Indian Journal of Paediatric Dermatology, 2022, v. 23, n. 3, p. 242, doi. 10.4103/ijpd.ijpd_26_22

By:

Priyadharshini, Indhra;
Varala, Sirisha;
Bharadwaj, Tallapaka;
Krishna, Ananthula

Publication type:

Article

Hyaline fibromatoses syndrome: A rare entity.

Published in:: Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 1, p. 64, doi. 10.4103/ijpd.IJPD_31_18
Publication type:: Article

Initial Description of the Presumed Congenital Zika Syndrome.

Published in:

American Journal of Public Health, 2016, v. 106, n. 4, p. 598, doi. 10.2105/AJPH.2016.303115

By:

de Barros Miranda-Filho, Demócrito;
Turchi Martelli, Celina Maria;
de Alencar Ximenes, Ricardo Arraes;
Barreto Araújo, Thalia Velho;
Wanderley Rocha, Maria Angela;
Ferreira Ramos, Regina Coeli;
Dhalia, Rafael;
de Oliveira Franca, Rafael Freitas;
de Azevedo Marques Junior, Ernesto Torres;
Cunha Rodrigues, Laura

Publication type:

Article

Management of Virilizing Congenital Adrenal Hyperplasia with Cyproheptadine.

Published in:

Annals of Internal Medicine, 1980, v. 92, n. 5, p. 628, doi. 10.7326/0003-4819-92-5-628

By:

Tah-Hsiung Hsu

Publication type:

Article

ARTHROGRYPOSIS AND ASSOCIATED DEFECTS IN A NEWBORN CALF.

Published in:

Indian Journal of Animal Research, 2010, v. 44, n. 2, p. 107

By:

Lucy, K. M.;
Indu, V. R.;
Harshan, K. R.;
Chungath, J. J.;
Thankachen, K. C.

Publication type:

Article

MULTIPLE CONGENITAL DEFECTS IN A NEW BORN CALF - A REPORT.

Published in:

Indian Journal of Animal Research, 2009, v. 43, n. 3, p. 219

By:

Vijayanand, V.;
Rajasundaram, R. C.;
Gokulakrishnan, M.

Publication type:

Article

Arthrogryposis multiplex congenita in Western Australia.

Published in:

1998

By:

SILBERSTEIN;
KAKULAS;
Silberstain;
Silberstein, E P;
Kakulas, B A

Publication type:

journal article

Caracterización ecográfica y anatomopatológica de pacientes con artrogriposis múltiple congénita. Serie de casos.

Published in:

2020

By:

Katherine Sandoval-Martinez, Diana;
Ángela Gutiérrez-Sánchez, Luz;
Zulay Jaimes-Sanabria, Mayra

Publication type:

Case Study

Tratamiento y desenlace obstétrico de una paciente con artrogriposis múltiple congénita.

Published in:

Ginecología y Obstetricia de México, 2019, v. 87, n. 4, p. 253, doi. 10.24245/gom.v87i4.2847

By:

Guzmán-López, Abel;
Treviño-Montemayor, Oscar Rubén;
Soria-López, Juan Antonio;
Saldivar-Rodríguez, Donato;
López-Rodríguez, Julio César

Publication type:

Article

117 例儿童脊髓性肌萎缩症自然病史分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2021, v. 23, n. 10, p. 1038, doi. 10.7499/j.issn.1008-8830.2106025

By:

杨贇滢;
袁萍;
李梅;
蒋莉;
洪思琦

Publication type:

Article

关节挛缩、肾功能不全和胆汁淤积综合征一家系临床特点及 VPS33B 基因突变分析

Published in:

Chinese Journal of Contemporary Pediatrics, 2017, v. 19, n. 10, p. 1077, doi. 10.7499/j.issn.1008-8830.2017.10.009

By:

黄大桂;
刘佳佳;
郭丽;
宋元宗

Publication type:

Article

Congenital Segmental Spinal Muscular Atrophy: A Case Report.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 4, p. 509, doi. 10.1177/0883073814550497

By:

Savaş, Tülin;
Erol, Ilknur;
Özkale, Yasemin;
Saygi, Semra

Publication type:

Article

A Novel Sporadic 614-Kb Duplication of the 22q11.2 Chromosome in a Child With Amyoplasia.

Published in:

2011

By:

Liewluck, Teerin;
Sacharow, Stephanie J.;
Fan, YaoShan;
Lopez-Alberola, Roberto

Publication type:

Case Study

A Case of Infantile Neuroaxonal Dystrophy—Connatal Seitelberger Disease.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 4, p. 418, doi. 10.1177/0883073807308710

By:

Chow, Gabriel;
Padfield, C. James H.

Publication type:

Article

Electromyography (EMG) Accuracy Compared to Muscle Biopsy in Childhood.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 7, p. 803, doi. 10.1177/0883073807304204

By:

Rabie, Malcolm;
Jossiphov, Joseph;
Nevo, Yoram

Publication type:

Article

Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 1, p. 106, doi. 10.1177/0883073807299968

By:

Al-Hassnan, Zuhair N.;
Al Budhaim, Mustafa;
Al-Owain, Mohammed;
Lach, Boleslaw;
Al-Dhalaan, Hesham

Publication type:

Article

Neurogenic Arthrogryposis Multiplex Congenita and Velopharyngeal Incompetence Associated With Chromosome 22q11.2 Deletion.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 1, p. 76, doi. 10.1177/08830738050200011301

By:

Castro-Gago, Manuel;
Iglasias-Meleiro, José María;
Blanco-Barca, Manuel Oscar;
Grande-Seijo, Mónica;
Barros-Angueira, Francisco;
Eiris-Puñal, Jesús

Publication type:

Article

Wilms' Tumor in a Case With Möbius' Syndrome Associated With Arthrogryposis and Mega Cisterna Magna.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 1, p. 67, doi. 10.1177/08830738040190010710

By:

Yaris, Nilgun;
Aynaci, F. Müjgan;
Kalyoncu, Mukaddes;
Ödemiş, Ender;
Okten, Aysenur

Publication type:

Article

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 9, p. 718, doi. 10.1177/088307380201700915

By:

Felderhoff-Mueser, Ursula;
Grohmann, Katja;
Harder, Anja;
Stadelmann, Christine;
Zerres, Klaus;
Bührer, Christoph;
Obladen, Michael

Publication type:

Article

Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 12, p. 934, doi. 10.1177/088307380101601213

By:

Falsaperla, Raffaele;
Romeo, Giusi;
Di Giorgio, Angelo;
Pavone, Piero;
Parano, Enrico;
Connolly, Anne M.

Publication type:

Article

Anesthetic management of a neonate with arthrogryposis multiplex congenita for emergency laparotomy.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2011, v. 27, n. 2, p. 244, doi. 10.4103/0970-9185.81831

By:

Chowdhuri, Rajat;
Samui, Samarendranath;
Kundu, Asim Kumar

Publication type:

Article

Research links Zika virus to severe joint condition at birth.

Published in:: Nursing Standard, 2016, v. 30, n. 52, p. 16, doi. 10.7748/ns.30.52.16.s18
Publication type:: Article

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Published in:

2015

By:

Todd, Emily J.;
Yau, Kyle S.;
Ong, Royston;
Slee, Jennie;
McGillivray, George;
Barnett, Christopher P.;
Haliloglu, Goknur;
Talim, Beril;
Akcoren, Zuhal;
Kariminejad, Ariana;
Cairns, Anita;
Clarke, Nigel F.;
Freckmann, Mary-Louise;
Romero, Norma B.;
Williams, Denise;
Sewry, Caroline A.;
Colley, Alison;
Ryan, Monique M.;
Kiraly-Borri, Cathy;
Sivadorai, Padma

Publication type:

journal article

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

Published in:

Turkish Journal of Pediatrics, 2024, v. 66, n. 2, p. 205, doi. 10.24953/turkjpediatr.2024.4511

By:

Daşar, Tuğba;
Gönen, Hasibe Nesligül;
Kösemehmetoğlu, Kemal;
Tekşam, Özlem;
Boduroğlu, Koray;
Utine, Gülen Eda;
Kiper, Pelin Özlem Şimşek

Publication type:

Article