Works matching DE "SYNDACTYLY"

Results: 203

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251353333

By:

Justus, Justus Omokhafe

Publication type:

Article

Síndrome de Pfeiffer tipo 2. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 1, p. 43

By:

Roldán-Arce, Jorge;
Villarroel-Cortés, Camilo

Publication type:

Article

Síndrome de Apert con agenesia renal, ¿una rara asociación?

Published in:

Revista Mexicana de Pediatria, 2014, v. 81, n. 1, p. 18

By:

Urdaneta-Carruyo, Eliéxer;
Vargas-Cobos, Yaneira;
Urdaneta-Contreras, Adriana Vanessa;
Valero Rivas, Jesús Alberto;
Alviárez Paredes, Lorena del Valle;
Contreras González, Paola Andrea

Publication type:

Article

Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.

Published in:

2010

By:

Ragavan, M.;
Reddy, Sarweswar;
Kumar, Chandramohan

Publication type:

journal article

EP133 DYSTROPHIC EPIDERMOLYSIS BULLOSA: TREATMENT OF SYNDACTYLIES AND CONTRACTURES.

Published in:

Journal of Wound Management, 2023, v. 24, n. 2, p. 106

By:

Rimdeikaite, Monika;
Rimdeika, Rytis

Publication type:

Article

IRF6 mutation in systemic sclerosis: innocent bystander or contributing factor?

Published in:

2022

By:

Rademacher, Jan-Gerd;
Korsten, Peter

Publication type:

Case Study

MORPHOLOGICAL STUDY OF FETUS WITH FRASER SYNDROME. A CASE REPORT.

Published in:

2015

By:

Munteanu, O.;
Filipoiu, F.;
Grosu, Luminiţa;
Cretu, Miliana;
Tulin, Raluca;
Bulescu, I. A.;
Bratila, Elvira;
Cirstoiu, Monica;
Secara, Diana

Publication type:

Case Study

Retroauricular full-thickness skin grafts in syndactyly repair: outcome and comparison with inguinal full-thickness skin grafts: retrospective (cross-sectional) study.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2016, v. 50, n. 5, p. 281, doi. 10.3109/2000656X.2016.1159218

By:

Sulser, Patrizia S.;
Kalisch, Markus;
Weber, Daniel M.

Publication type:

Article

V-Y and rectangular flap combination for syndactyly repair.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2016, v. 50, n. 2, p. 102, doi. 10.3109/2000656X.2015.1106409

By:

Karamese, Mehtap;
Akdag, Osman;
Selimoglu, Muhammed Nebil;
Unal Yıldıran, Gokce;
Tosun, Zekeriya

Publication type:

Article

Analysis of web height ratios according to age and sex.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2015, v. 49, n. 3, p. 160, doi. 10.3109/2000656X.2014.967698

By:

Sari, Elif

Publication type:

Article

Anesthetic Management of Patient for Case with Apert Syndrome.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2018, v. 56, n. 2, p. 162, doi. 10.4274/haseki.96967

By:

Küçükosman, Gamze;
Aydın, Bengü Gülhan;
Aktaş, Bahar;
Ayoğlu, Hilal

Publication type:

Article

A Case of Pfeiffer Syndrome Type 1.

Published in:

2010

By:

Karaman, Ali;
Laloğlu, Fuat;
Kahveci, Hasan;
Arslan, Remzi

Publication type:

Case Study

Association of Clinodactyly and Syndactyly: A Pictorial Presentation.

Published in:

2015

By:

Durmuş, Oğuz;
Cüce, Ferhat;
Ata, Emre

Publication type:

Case Study

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 1, p. 473, doi. 10.3892/mmr.2017.6576

By:

Hao Deng;
Ting Tan;
Quanyong He;
Qiongfen Lin;
Zhijian Yang;
Anding Zhu;
Liping Guan;
Jingjing Xiao;
Zhi Song;
Yi Guo

Publication type:

Article

Fraser syndrome: A rare congenital anomaly.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2011, v. 5, n. 2, p. 111

By:

Belagatti, Satish;
Kadam, Sunil S.;
Kulkarni, Vardendra;
Jawali, Poornima

Publication type:

Article

Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria.

Published in:

GMS Medizinische Informatik, Biometrie und Epidemiologie, 2009, v. 5, n. 2, p. 1

By:

Oyinbo, Charles A.;
Dare, Nervey W.;
Amain, Ebidimie D.

Publication type:

Article

Síndrome de Down y sindactilia. Una asociación poco frecuente.

Published in:

Universitas Médica, 2011, v. 52, n. 1, p. 98

By:

PACHAJOA, HARRY

Publication type:

Article

Syndromes Caused by the Mutations in GLI3 Gene.

Published in:

Current Pediatric Reviews, 2010, v. 6, n. 4, p. 219, doi. 10.2174/157339610794776195

By:

Naruse, Ichiro;
Ueta, Etsuko;
Sumino, Yoshiki;
Ogawa, Masaya

Publication type:

Article

Fraser Syndrome: Affected Siblings Born to Nonconsanguineous Parents and Diagnosed at Autopsy.

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 220, doi. 10.2350/07-04-0254.1

By:

De Jong, Ann;
Warren, Miranda;
Rehrauer, William;
Harter, Josephine;
Baraboo, Melissa;
Chandra, Sunita;
Pauli, Richard M.;
Singer, Don B.;
Fritsch, Michael K.

Publication type:

Article

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Published in:

Eye (0950-222X), 2015, v. 29, n. 7, p. 972, doi. 10.1038/eye.2015.74

By:

Huang, X;
Wang, N;
Xiao, X;
Li, S;
Zhang, Q

Publication type:

Article

Asterixis in the leg induced by anterior cerebral artery infarction.

Published in:

2016

By:

Sunwoo, Mun;
Jang, Hyun-soon;
Roh, Sook;
Yoo, Hyun;
Jeong, Eun;
Kim, Byung-Su;
Choe, Yeo;
Lee, Ko-Eun;
Sunwoo, Mun Kyung;
Roh, Sook Young;
Yoo, Hyun Jung;
Jeong, Eun Hye;
Choe, Yeo Reum

Publication type:

journal article

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 10, p. 701, doi. 10.1038/jhg.2011.84

By:

Kurban, Mazen;
Wajid, Muhammad;
Petukhova, Lynn;
Shimomura, Yutaka;
Christiano, Angela M

Publication type:

Article

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 352, doi. 10.1038/jhg.2011.18

By:

Jelani, Musharraf;
Chishti, Muhammad Salman;
Ahmad, Wasim

Publication type:

Article

A syndactyly type IV locus maps to 7q36.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 561, doi. 10.1007/s10038-007-0150-5

By:

Sato, Daisuke;
Desheng Liang;
Lingqian Wu;
Qian Pan;
Kun Xia;
Heping Dai;
Wang, Hua;
Nishimura, Gen;
Yoshiura, Koh-Ichiro;
Jiahui Xia;
Niikawa, Norio

Publication type:

Article

Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit.

Published in:

2016

By:

Gallego, M.;
Avedillo, L.

Publication type:

Case Study

APERT SYNDROME (ACROCEPHALOSYNDACTYLY).

Published in:

2012

By:

Mouli, P. E. Chandra;
Kumar, T. Selva

Publication type:

Case Study

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990

By:

Moosa, Shahida;
Loeys, Bart;
Altmüller, Janine;
Mortier, Geert;
Nürnberg, Peter;
Li, Yun;
Wollnik, Bernd;
Vogel, Ida

Publication type:

Article

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 318, doi. 10.1111/cge.12352

By:

Lohan, S.;
Spielmann, M.;
Doelken, S.C.;
Flöttmann, R.;
Muhammad, F.;
Baig, S.M.;
Wajid, M.;
Hülsemann, W.;
Habenicht, R.;
Kjaer, K.W.;
Patil, S.J.;
Girisha, K.M.;
Abarca‐Barriga, H.H.;
Mundlos, S.;
Klopocki, E.

Publication type:

Article

Smith-Lemli-Opitz syndrome among Arabs.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 165, doi. 10.1111/j.1399-0004.2011.01742.x

By:

Al-Owain, M;
Imtiaz, F;
Shuaib, T;
Edrees, A;
Al-Amoudi, M;
Sakati, N;
Al-Hassnan, Z;
Bamashmous, H;
Rahbeeni, Z;
Al-Ameer, S;
Faqeih, E;
Meyer, B;
Al-Hashem, A;
Garout, W;
Al-Odaib, A;
Rashed, M;
Al-Aama, JY

Publication type:

Article

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 409, doi. 10.1038/ejhg.2014.118

By:

Döcker, Dennis;
Schubach, Max;
Menzel, Moritz;
Spaich, Christiane;
Gabriel, Heinz-Dieter;
Zenker, Martin;
Bartholdi, Deborah;
Biskup, Saskia

Publication type:

Article

Syndactyly: phenotypes, genetics and current classification.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 817, doi. 10.1038/ejhg.2012.14

By:

Malik, Sajid

Publication type:

Article

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95

By:

Ghoumid, Jamal;
Andrieux, Joris;
Sablonnière, Bernard;
Odent, Sylvie;
Philippe, Nathalie;
Zanlonghi, Xavier;
Saugier-Veber, Pascale;
Bardyn, Thomas;
Manouvrier-Hanu, Sylvie;
Holder-Espinasse, Muriel

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

Complete Videoendoscopic Harvest And Transposition of Latissimus Dorsi Muscle for The Treatment of Poland Syndrome: A First Report.

Published in:

Journal of Laparoendoscopic & Advanced Surgical Techniques, 2007, v. 17, n. 1, p. 108, doi. 10.1089/lap.2006.0540

By:

Martinez-Ferro, Marcelo;
Fraire, Carlos;
Saldaña, Lily;
Reussmann, Aixa;
Dogliotti, Pedro

Publication type:

Article

Dactylolysis spontanea (ainhum).

Published in:

2015

By:

Garcia Rondina, Ronaldo;
Andrade Fernandes de Mello, Ricardo;
de Oliveira, Gabriel Antônio;
Bastos Pessanha, Laís;
Alves Guerra, Luiz Felipe;
Nava Martins, Diego Lima

Publication type:

Case Study

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate.

Published in:

PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005059

By:

Wolf, Zena T.;
Brand, Harrison A.;
Shaffer, John R.;
Leslie, Elizabeth J.;
Arzi, Boaz;
Willet, Cali E.;
Cox, Timothy C.;
McHenry, Toby;
Narayan, Nicole;
Feingold, Eleanor;
Wang, Xioajing;
Sliskovic, Saundra;
Karmi, Nili;
Safra, Noa;
Sanchez, Carla;
Deleyiannis, Frederic W. B.;
Murray, Jeffrey C.;
Wade, Claire M.;
Marazita, Mary L.;
Bannasch, Danika L.

Publication type:

Article

Sp6 and Sp8 Transcription Factors Control AER Formation and Dorsal-Ventral Patterning in Limb Development.

Published in:

PLoS Genetics, 2014, v. 10, n. 8, p. 1, doi. 10.1371/journal.pgen.1004468

By:

Haro, Endika;
Delgado, Irene;
Junco, Marisa;
Yamada, Yoshihiko;
Mansouri, Ahmed;
Oberg, Kerby C.;
Ros, Marian A.

Publication type:

Article

A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse.

Published in:

PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003998

By:

Rainger, Joe;
Keighren, Margaret;
Keene, Douglas R.;
Charbonneau, Noe L.;
Rainger, Jacqueline K.;
Fisher, Malcolm;
Mella, Sebastien;
Huang, Jeffrey T-J.;
Rose, Lorraine;
van't Hof, Rob;
Sakai, Lynne Y.;
Jackson, Ian J.;
FitzPatrick, David R.

Publication type:

Article

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.

Published in:

2013

By:

Ramachandran, Kapil V;
Hennessey, Jessica A;
Barnett, Adam S;
Yin, Xinhe;
Stadt, Harriett A;
Foster, Erika;
Shah, Raj A;
Yazawa, Masayuki;
Dolmetsch, Ricardo E;
Kirby, Margaret L;
Pitt, Geoffrey S

Publication type:

journal article

Calcium influx through L-type Cav1.2 Ca2+ channels regulates mandibular development.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 4, p. 1638, doi. 10.1172/JCI66903

By:

Ramachandran, Kapil V.;
Hennessey, Jessica A.;
Barnett, Adam S.;
Xinhe Yin;
Stadt, Harriett A.;
Foster, Erika;
Shah, Raj A.;
Yazawa, Masayuki;
Dolmetsch, Ricardo E.;
Kirby, Margaret L.;
Pitt, Geoffrey S.

Publication type:

Article

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Published in:

BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4032543

By:

Linpeng, Siyuan;
Liu, Jing;
Pan, Jianyan;
Cao, Yingxi;
Teng, Yanling;
Liang, Desheng;
Li, Zhuo;
Wu, Lingqian

Publication type:

Article

Brown Tumour of Posterior Maxilla Associated with Polydactyly, Syndactyly and Cardiac Anomalies: A Unique Case Report.

Published in:

2014

By:

SURESH, K. V.;
NILESH, KUMAR;
MOUNESH KUMAR, C. D.;
PATIL, MANISHA R.;
PRAMOD, R. C.

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

Anesthetic management of craniosynostosis repair in patient with Apert syndrome.

Published in:

2014

By:

Kumar, Niraj;
Arora, Shubhangi;
Bindra, Ashish;
Goyal, Keshav

Publication type:

Case Study

Anesthetic management of a child with Apert.

Published in:

2011

By:

Metodiev, Yavor;
Gavrilova, Nadezhda;
Katzarov, Atanas

Publication type:

Case Study

Síndrome de Poland. Informe de un caso.

Published in:

Revista Medica del IMSS, 2010, v. 48, n. 1, p. 79

By:

Téllez-Olvera, Alejandro;
Romero-Álvarez, Jorge;
Salgado-Molina, Miguel Ángel

Publication type:

Article

Unilateral cleft hand' lobster-claw deformity) ;A case report.

Published in:

Journal of Chinese Clinical Medicine, 2009, v. 4, n. 6, p. 329

By:

Padmavathy, L.;
Lakshmana, Rao L.;
Kanthimathi, B.;
Adaikappan, M.;
Ethirajan, N.

Publication type:

Article

Successful, Full-Thickness Skin Graft in a Bald Eagle (Haliaeetus leucocephalus).

Published in:

Journal of Avian Medicine & Surgery, 2019, v. 33, n. 2, p. 184, doi. 10.1647/2017-323

By:

Kane, Lauren P.;
Shrader, Trenton C.;
Stice, R. Coleen

Publication type:

Article

Dental management of oculodentodigital dysplasia: a case report.

Published in:

2010

By:

Aminabadi, Naser A.;
Pourkazemi, Maryam;
Oskouei, Sina G.;
Jamali, Zahra

Publication type:

Case Study

Unilateral syndactyly, hemihypertrophy, and hyperpigmentation with mosaic 2q35 deletion.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 5, p. 558, doi. 10.4103/ijd.ijd_649_21

By:

Ali, Akhtar;
Kumar, Ajeet;
Dubey, Pawan;
Pandey, Vivek;
Singh, Ankur

Publication type:

Article