Works matching DE "POLYDACTYLY"

Results: 418

Ulnar polydactyly of the hand: a classification system and clinical series.

Published in:

BMC Musculoskeletal Disorders, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12891-025-08719-4

By:

Chen, Dan;
Zhong, Wenyao;
Sun, Liying;
Zhao, Zongxuan;
Tian, Wen

Publication type:

Article

Taki Onqoy o Ayra: Culto de los Lucanas y Soras.

Published in:

Ñawpa Pacha, 2025, v. 45, n. 1, p. 1, doi. 10.1080/00776297.2024.2399424

By:

Quichua Chaico, David

Publication type:

Article

Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants.

Published in:

PLoS Biology, 2011, v. 9, n. 12, p. 1, doi. 10.1371/journal.pbio.1001219

By:

Lee, Brian H.;
Jason Liu;
Daisy Wong;
Srinivasan, Supriya;
Ashrafi, Kaveh

Publication type:

Article

Complex bilateral polysyndactyly featuring a triplet of delta phalanges in a syndactylised digit.

Published in:

2002

By:

Calif, Edward;
Stahl, Shalom

Publication type:

journal article

Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

Published in:

2022

By:

Kelani, A. B.;
Sanoussi, S.;
Mamadou, M. Garba;
Catala, M.

Publication type:

Case Study

Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma.

Published in:

Child's Nervous System, 2015, v. 31, n. 5, p. 789, doi. 10.1007/s00381-014-2545-x

By:

Sarma, P.;
Bindu, P.;
Dwarakanath, S.;
Somanna, S.

Publication type:

Article

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 2, p. 191, doi. 10.5152/TurkArchPediatr.2025.24336

By:

Altunoglu, Umut;
Karaman, Birsen;
Alanay, Yasemin;
Perçin, Ferda;
Uyguner, Zehra Oya;
Kayserili, Hülya

Publication type:

Article

پیری سلولی زودرس در کندروسیتهای جدا شده از غضروف انگشتان پلیداكتیلی در محیط حاوی سرم جنین گاوی در مقایسه با سرم انسانی.

Published in:

Medical Journal of Tabriz University of Medical Sciences, 2022, v. 43, n. 6, p. 497, doi. 10.34172/mj.2022.002

By:

هاجر شفائی;
اعظم فارانی;
زهرا بقائی;
اطمه مرتضوی

Publication type:

Article

Polydactyly in Arctic foxes (Vulpes lagopus).

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2011, v. 35, n. 4, p. 277, doi. 10.3906/vet-1004-275

By:

GUGOŁEK, Andrzej;
STRYCHALSKI, Janusz;
KONSTANTYNOWICZ, Małgorzata

Publication type:

Article

A rare case of mobile diplopodia mistaken for polydactyly.

Published in:

2023

By:

Woodacren, Timothy;
Dunkerley, Sarah;
Cox, Peter J.

Publication type:

Case Study

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70088

By:

Qi, Yongzhen;
Liu, Kai;
Wei, Yuda;
Liu, Xiaxia;
Jiang, Liangqian;
Teng, Juan;
Chong, Baoqiang;
Zheng, Shuqi;
Zhao, Xiangyu;
Li, Lin

Publication type:

Article

A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2468

By:

Nguyen, Thy Ngoc;
Tran, Giang Son;
Hoang, Hai Duc;
Nguyen, Long Giang

Publication type:

Article

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review.

Published in:

2024

By:

Pi, Xiaohuan;
Zhang, Qiming;
Wang, Xinghua;
Jiang, Fagang

Publication type:

Case Study

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Published in:

2022

By:

Wang, Yusi;
Hao, Xuguang;
Jia, Xueyuan;
Ji, Wei;
Yuan, Shuai;
Gnamey, Estelle Judith Abla;
Huang, Min;
Xu, Lidan;
Zhang, Xuelong;
Bai, Jing;
Sun, Wenjing;
Fu, Songbin;
Liu, Yong;
Wu, Jie

Publication type:

Case Study

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869

By:

Sloboda, Natacha;
Lambert, Laetitia;
Ciorna, Viorica;
Bruel, Ange‐Line;
Tran Mau‐Them, Frédéric;
Gomola, Vladimir;
Lemelle, Jean‐Louis;
Klein, Olivier;
Camoin‐Schweitzer, Marie‐Christine;
Magnavacca, Marie;
Legagneur, Carole;
Ezsto, Marie‐Laure;
Bonnet, Céline;
Philippe, Christophe;
Leheup, Bruno

Publication type:

Article

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1895

By:

Shen, Xiaofang;
Zhang, Shun;
Zhang, Xin;
Zhou, Taifeng;
Rui, Yongjun

Publication type:

Article

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1850

By:

Shen, Fang;
Yang, Yongjia;
Li, Pengcheng;
Zheng, Yu;
Luo, Zhenqing;
Fu, Yuyan;
Zhu, Guanghui;
Mei, Haibo;
Chen, Shanlin;
Zhu, Yimin

Publication type:

Article

Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1524

By:

Zhang, Xinyue;
You, Yanqin;
Xie, Xiaoxiao;
Xu, Hong;
Zhou, Honghui;
Lei, Yuanmei;
Sun, Pei;
Meng, Yuanguang;
Wang, Longxia;
Lu, Yanping

Publication type:

Article

P15.15: Short-rib polydactyly syndrome type II.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 223, doi. 10.1002/uog.9812

By:

Soria, A.;
Iglesias, J.;
Sepulveda Gonzalez, G.;
Triana, H.;
Flores Acosta, C.;
Saldivar, D.;
Treviño Martinez, G.;
Vidales, M.

Publication type:

Article

The nail dermis: from microanatomy to constitutive modelling.

Published in:

Histopathology, 2015, v. 66, n. 6, p. 864, doi. 10.1111/his.12608

By:

Perrin, Christophe

Publication type:

Article

Anatomical variation of quadratus plantae with flexor digitorum longus tendon along with unilateral polydactyly of the toes: a rare case report.

Published in:

Anatomy & Cell Biology, 2025, v. 58, n. 1, p. 132, doi. 10.5115/acb.24.194

By:

Krishna, Hare;
Gaur, Rahul;
Gupta, Sarthak;
Ghatak, Surajit

Publication type:

Article

Development of patients with 47,XX,+13/45,X mosaics: Case report and review of the literature.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 2, p. 251, doi. 10.1007/s00431-013-2001-z

By:

Tang, Hao-Wei;
Liao, Su-Fen;
Li, Jyun-Sian

Publication type:

Article

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 11, p. 1467, doi. 10.1007/s00431-013-2071-y

By:

Dai, Limeng;
Guo, Hong;
Meng, Hui;
Zhang, Kun;
Hu, Hua;
Yao, Hong;
Bai, Yun

Publication type:

Article

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1131, doi. 10.1007/s00431-013-1938-2

By:

Sethi, Sidharth;
Goyal, Deepak;
Khalil, Sumaira;
Yadav, Dinesh

Publication type:

Article

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0

By:

Calinescu-Tuleasca, Ana-Maria;
Bottani, Armand;
Rougemont, Anne-Laure;
Birraux, Jacques;
Gubler, Marie-Claire;
Coultre, Claude;
Majno, Pietro;
Mentha, Gilles;
Girardin, Eric;
Belli, Dominique;
Wildhaber, Barbara

Publication type:

Article

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Published in:

2010

By:

Shafeghati, Yousef;
Kahrizi, Kimia;
Najmabadi, Hossein;
Kuss, Andreas Walter;
Ropers, Hans-Hilger;
Tzschach, Andreas

Publication type:

journal article

An unusual case of radial polydactyly, (tetraplication of the thumb, duplication of the radial carpal bones and bifurcation of the radius).

Published in:

2014

By:

Jalili, Alireza;
Mazhar, Farid Najd

Publication type:

Case Study

An unusual case of preaxial polydactyly of the hand (triplication of the thumbs).

Published in:

Medical Journal of the Islamic Republic of Iran, 2013, v. 27, n. 2, p. 91

By:

Jafari, Davood;
Shariatzade, Hooman;
Mazhar, Farid Najd;
Abbasgholizadeh, Behzad;
Dashtebozorgh, Ahmad

Publication type:

Article

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.

Published in:

Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 2153, doi. 10.2147/JMDH.S274739

By:

Caba, Lavinia;
Florea, Laura;
Braha, Elena Emanuela;
Lupu, Valeriu Vasile;
Gorduza, Eusebiu Vlad

Publication type:

Article

Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.

Published in:

2018

By:

Hayek, Femia

Publication type:

journal article

Infant with a big head and 'crossed' polysyndactyly.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 5, p. 770, doi. 10.1111/jpc.16063

By:

Tamaro, Gianluca;
Baldo, Francesco;
Spedicati, Beatrice;
Taddio, Andrea;
Faletra, Flavio;
Barbi, Egidio

Publication type:

Article

Infant with a big head and 'crossed' polysyndactyly.

Published in:: Journal of Paediatrics & Child Health, 2023, v. 59, n. 5, p. 773, doi. 10.1111/jpc.1_16063
Publication type:: Article

Girl with polydactyly and pigmentary retinopathy.

Published in:: 2017
Publication type:: journal article

Girl with polydactyly and pigmentary retinopathy.

Published in:

2017

By:

Tripathy, Koushik;
Chawla, Rohan;
Sarkar, Subhankar

Publication type:

journal article

Radiographic Features of Ellis-Van Creveld Syndrome.

Published in:

2011

By:

Shamas, M. Nasir;
Ganie, M. Ashraf;
Ahmed, Sanjeed

Publication type:

Case Study

A New Hupehsuchian (Reptilia: Ichthyosauromorpha) from the Lower Triassic of South China with Implications for the Evolution of Polydactyly.

Published in:

Journal of Vertebrate Paleontology, 2023, v. 43, n. 2, p. 1, doi. 10.1080/02724634.2023.2279530

By:

Qiao, Yu;
Motani, Ryosuke;
Iijima, Masaya;
Liu, Jun

Publication type:

Article

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome: A Case Report.

Published in:

2013

By:

Kariminejad, Ariana;
Radmanesh, Farid;
Rezayi, Ali-reza;
Tonekaboni, Seyed-Hasan;
Gleeson, Joseph G.

Publication type:

Case Study

The possibilities and challenges in pain management of a child with 26 fingers posted for polydactyly excisions of all 4 limbs!

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2022, v. 38, n. 2, p. 345, doi. 10.4103/joacp.JOACP_119_20

By:

Patil, Anagha;
Ponde, Vrushali C.;
Johari, Ashok;
Jain, Mohit;
Kaushik, Aditya

Publication type:

Article

Polydactyly: A Review.

Published in:

Neonatal Network, 2016, v. 35, n. 3, p. 135, doi. 10.1891/0730-0832.35.3.135

By:

Farrugia, Marie Claire;
Calleja-Agius, Jean

Publication type:

Article

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Published in:

Journal of Bone & Mineral Research, 2019, v. 34, n. 2, p. 375, doi. 10.1002/jbmr.3594

By:

Schrauwen, Isabelle;
Giese, Arnaud PJ;
Aziz, Abdul;
Lafont, David Tino;
Chakchouk, Imen;
Santos‐Cortez, Regie Lyn P;
Lee, Kwanghyuk;
Acharya, Anushree;
Khan, Falak Sher;
Ullah, Asmat;
Nickerson, Deborah A;
Bamshad, Michael J;
Ali, Ghazanfar;
Riazuddin, Saima;
Ansar, Muhammad;
Ahmad, Wasim;
Ahmed, Zubair M;
Leal, Suzanne M

Publication type:

Article

Pallister--Hall Syndrome.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 3, p. 276, doi. 10.4103/jpn.JPN_101_17

By:

Chandra, Sadanandvalli Retnaswami;
Daryappa, Mane Maheshkumar;
Mukheem Mudabbir, M. A.;
Pooja, M.;
Arivazhagan, A.

Publication type:

Article

Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 43, doi. 10.4103/1817-1745.205644

By:

Ramdurg, Shashank Ravindra

Publication type:

Article

Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature.

Published in:

Journal of Pediatric Neurosciences, 2013, v. 8, n. 2, p. 154, doi. 10.4103/1817-1745.117855

By:

Parelkar, Sandesh V.;
Kapadnis, Satish P.;
Sanghvi, Beejal V.;
Joshi, Prashant B.;
Mundada, Dinesh;
Oak, Sanjay N.

Publication type:

Article

Evidence for dissociable representations for body image and body schema from a patient with visual neglect.

Published in:

Neurocase (Taylor & Francis Ltd), 2011, v. 17, n. 6, p. 473, doi. 10.1080/13554794.2010.532504

By:

Preston, Catherine;
Newport, Roger

Publication type:

Article

Nails blue? Don't be sad, the cause may be discoverable.

Published in:

Drugs & Therapy Perspectives, 2023, v. 39, n. 10, p. 344, doi. 10.1007/s40267-023-01022-z

By:

Lee, Arnold

Publication type:

Article

Casbane Diterpenes from Red Sea Coral Sinularia polydactyla.

Published in:

Molecules, 2016, v. 21, n. 3, p. 308, doi. 10.3390/molecules21030308

By:

Hegazy, Mohamed-Elamir F.;
Mohamed, Tarik A.;
Elshamy, Abdelsamed I.;
Al-Hammady, Montaser A.;
Ohta, Shinji;
Paré, Paul W.

Publication type:

Article

BARDET BIEDL SYNDROME IN PREGNANCY: A CASE REPORT.

Published in:

Era's Journal of Medical Research, 2022, v. 9, n. 1, p. 96, doi. 10.24041/ejmr2021.20

By:

Kumari, Shweta;
Rizvi, Shabnam;
Singh, Amrita;
Ahmad, Ayesha;
Kashiv, Shriya

Publication type:

Article

BARDET BIEDL SYNDROME IN PREGNANCY: A CASE REPORT.

Published in:

Era's Journal of Medical Research, 2021, v. 8, n. 1, p. 96, doi. 10.24041/ejmr2021.20

By:

Kumari, Shweta;
Rizvi, Shabnam;
Singh, Amrita;
Ahmad, Ayesha;
Kashiv, Shriya

Publication type:

Article

Ellis-Van Creveld Syndrome, a Rare Anomaly with Obvious Musculoskeletal Variations.

Published in:

2024

By:

Achappa, Basavaprabhu;
Amrita;
Murlimanju, B. V.

Publication type:

Case Study

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00190-0

By:

Sato, Hiroki;
Suga, Kenichi;
Suzue, Masashi;
Honma, Yukako;
Hayabuchi, Yasunobu;
Miyai, Shunsuke;
Kurahashi, Hiroki;
Nakagawa, Ryuji

Publication type:

Article