Works matching DE "POLYDACTYLY"

Results: 423

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Published in:

Clinical Genetics, 2025, v. 108, n. 1, p. 92, doi. 10.1111/cge.14711

By:

Zgheib, Omar;
Jacques, Léa;
Frizon, Louise;
Windisch, Gabriela;
Fokstuen, Siv

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

Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 2, p. 154, doi. 10.1159/000535509

By:

Su, Xiao-Rong;
Ma, Bin;
Zhang, Chuan;
Li, Tian-Gang;
Han, Bao-Long;
Wu, Wen-Rui;
Nie, Fang

Publication type:

Article

Surgical Management of Bilateral Maxillary Buccal Exostosis in a patient with polydactyly and distomolars - A Rare Case Report.

Published in:

Integrative Journal of Medical Sciences, 2020, v. 7, p. 1, doi. 10.15342/ijms.7.180

By:

Alanazi, Sultan

Publication type:

Article

A Case of Type II Polydactyly and Flexor Tendon Contracture in a Calf.

Published in:

Kocatepe Veterinary Journal / Kocatepe Veteriner Dergisi, 2024, v. 17, n. 4, p. 447, doi. 10.30607/kvj.1559878

By:

YAYGINGÜL, Rahime;
AYBAK, Ezgi Sude

Publication type:

Article

A dominant missense variant within LMBR1 related to equine polydactyly.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07065-w

By:

Luan, Yue;
Zhong, Ling;
Li, Cao;
Yue, Xiaoyu;
Ye, Mengyan;
Wang, Jianpeng;
Zhu, Yiping;
Wang, Qin

Publication type:

Article

From Private Practice to Academia: The Experience of a General Academic Pediatrician.

Published in:

Journal of Medical Education & Curricular Development, 2023, p. 1, doi. 10.1177/23821205231203828

By:

Kum-Nji, Philip

Publication type:

Article

From Private Practice to Academia: The Experience of a General Academic Pediatrician.

Published in:

Journal of Medical Education & Curricular Development, 2023, v. 10, p. 1, doi. 10.1177/23821205231203828

By:

Kum-Nji, Philip

Publication type:

Article

Two Newborns Presenting with Intraabdominal Cystic Mass and Obstructive Uropathy: Hydrometrocolpos due to Vaginal Atresia.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 1, p. 149, doi. 10.4274/atfm.galenos.2022.75768

By:

Anadolulu, Ali İhsan

Publication type:

Article

Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs.

Published in:

Animal Genetics, 2024, v. 55, n. 2, p. 277, doi. 10.1111/age.13399

By:

Hao, Yongle;
Song, Yunlei;
Chen, Fei;
Tang, Jianhong

Publication type:

Article

Polydactyly mutation is linked with chromosome 2p region in Beijing fatty chicken.

Published in:

Animal Genetics, 2013, v. 44, n. 1, p. 118, doi. 10.1111/j.1365-2052.2012.02369.x

By:

Yang, K.;
Chen, Y.;
Gu, C.;
Zhou, Z.;
He, C.;
Tang, L.;
Li, S.;
Zhao, L.;
Meng, H.;
Huang, Q.

Publication type:

Article

A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.542004

By:

Xiang, Ying;
Li, Xiaoliang;
Zhan, Zhiyan;
Feng, Jue;
Cai, Haiqing;
Li, Yanxin;
Fu, Qihua;
Xu, Yunlan;
Jiang, Hong;
Zhang, Xiaoqing

Publication type:

Article

Genotype–Phenotype Correlation of EVC Variants in Ellis-Van Creveld Syndrome: A Systematic Review and Case Report.

Published in:

Cardiogenetics, 2025, v. 15, n. 2, p. 11, doi. 10.3390/cardiogenetics15020011

By:

Rodriguez-Cambranis, Sandra;
Castillo-Espinola, Addy-Manuela;
Fuentelzas-Rosado, Claudia-Daniela;
Salazar-Sansores, Paulina;
Nuñez-Solis, Claudia-Gabriela;
Laviada-Molina, Hugo-Antonio;
Zetina-Solorzano, Aurea-Karina;
Campos-Garcia, Felix-Julian

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

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.

Published in:

Clinical & Experimental Dermatology, 2014, v. 39, n. 3, p. 406, doi. 10.1111/ced.12291

By:

Valdivielso‐Ramos, M.;
Solera, J.;
Mauleon, C.;
Hernanz, J. M.;
Amiñoso, C.;
Galiano, S.;
la Cueva, P.

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

Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report.

Published in:

2019

By:

Montplaisir, Rose;
Lee, Erica;
Moreno‐De‐Luca, Daniel;
Myers, Wade C.;
Moreno-De-Luca, Daniel

Publication type:

journal article

Fetal anatomy of the abductor pollicis brevis and its clinical importance.

Published in:

Anatomy: International Journal of Experimental & Clinical Anatomy, 2024, v. 18, n. 3, p. 73, doi. 10.2399/ana.24.1479104

By:

Adanır, Saliha Seda;
Korkmaz, Simge;
Beger, Orhan;
Bahşi, İlhan;
Kervancıoğlu, Piraye;
Orhan, Mustafa

Publication type:

Article

Pseudo-polydactyly in a horse.

Published in:

Equine Veterinary Education, 2015, v. 27, n. 3, p. 133, doi. 10.1111/eve.12291

By:

Valbonetti, L.;
Briola, C.;
Tosi, U.;
Marruchella, G.;
Muttini, A.

Publication type:

Article

Radiological and histopathological features of short rib-polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Published in:

Molecular Medicine Reports, 2021, v. 23, n. 6, p. N.PAG, doi. 10.3892/mmr.2021.12065

By:

Xia, Chun-Ling;
Xiao, Shi-Qi;
Yang, Xue;
Liu, Cai-Xia;
Qiu, Hao;
Jiang, Hong-Kun;
Li-Ling, Jesse;
Lyu, Yuan

Publication type:

Article

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome.

Published in:

Journal of Ophthalmology, 2021, p. 1, doi. 10.1155/2021/6751857

By:

Huang, Li;
Sun, Limei;
Wang, Zhirong;
Li, Songshan;
Chen, Chonglin;
Luo, Xiaoling;
Ding, Xiaoyan

Publication type:

Article

Supernumerary Bones in Superior and Inferior Extremity.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2015, v. 9, n. 1, p. 198, doi. 10.5958/0973-9130.2015.00048.1

By:

Gujar, Vijay;
Bokariya, Pradeep;
Hiware, Sanket;
Shende, M. R.

Publication type:

Article

Meckel Gruber Syndrome- A Case Report.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2012, v. 6, n. 2, p. 236

By:

Kulkarni, Vardendra;
Bijjaragi, Seema;
Belagatti, Satish;
Kadam, Sunil S.

Publication type:

Article

Two cases of polydactyly in wild brown howler monkeys ( Alouatta guariba clamitans).

Published in:

Journal of Medical Primatology, 2016, v. 45, n. 1, p. 47, doi. 10.1111/jmp.12205

By:

Silva, Moira Ansolch;
Steinberg, Eliana R.;
Paskulin, Giorgio A.;
Teixeira, Fábio dos Santos;
Jesus, Anamélia de Souza;
Mudry, Marta D.;
Bicca‐Marques, Júlio César

Publication type:

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

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

The vīthī, lāsya and nāṭikā, and the daśarūpa List in the Nāṭyaśāstra.

Published in:

Acta Asiatica Varsoviensia, 2023, n. 36, p. 265, doi. 10.60018/AcAsVa.jreu4722

By:

TIEKEN, Herman

Publication type:

Article

Epidemiological statistics of congenital thumb duplication in the Chinese population.

Published in:

Journal of Orthopaedic Surgery & Research, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13018-021-02567-3

By:

Yao, Yingling;
Zhou, Haolin;
Li, Lianyong;
Nan, Guoxin

Publication type:

Article

Descripción de la muestra del banco de ADN de recién nacidos con malformaciones congénitas.

Published in:

Universitas Médica, 2009, v. 50, n. 3, p. 302

By:

ZARANTE, IGNACIO;
PALACIOS, ANA MARÍA;
HENAO, JUANITA;
AVALA, PAOLA;
SALAZAR, MARLENY;
ACOSTA, JOHANNA;
GORDILLO, GISEL;
LÓPEZ, CATALINA;
CADENA, PAOLA

Publication type:

Article

MicroRNA-199a-3p, microRNA-193b, and microRNA-320c are correlated to aging and regulate human cartilage metabolism.

Published in:

Journal of Orthopaedic Research, 2012, v. 30, n. 12, p. 1915, doi. 10.1002/jor.22157

By:

Ukai, Taku;
Sato, Masato;
Akutsu, Hidenori;
Umezawa, Akihiro;
Mochida, Joji

Publication type:

Article

Back to Basics.

Published in:

Journal of Forensic Identification, 2018, v. 68, n. 1, p. 160

By:

Siegel, Sandy

Publication type:

Article

Radial Polydactyly. What's new?

Published in:

Current Pediatric Reviews, 2018, v. 14, n. 2, p. 91, doi. 10.2174/1573396314666180124102012

By:

Perez-Lopez, Laura M.;
Iglesia, Diego Gutierrez-de la;
Cabrera-Gonzalez, Marisa

Publication type:

Article

Graphical Abstracts.

Published in:: Current Pediatric Reviews, 2018, v. 14, n. 2, p. 1
Publication type:: Article

NEVER-NADA.

Published in:

2016

By:

NORTON, VANESSA

Publication type:

Short Story

Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 1, p. 40, doi. 10.2350/14-05-1496-OA.1

By:

OKIRO, PATRICIA;
WAINWRIGHT, HELEN;
SPRANGER, JÜRGEN;
BEIGHTON, PETER

Publication type:

Article

Supernumerary Intestinal Muscle Coat in a Patient with Hirschsprung Disease/Mowat-Wilson Syndrome.

Published in:

2010

By:

Leong, May;
Verey, Frances;
Newbury-Ecob, Ruth;
Ramani, Pramila

Publication type:

Case Study

Combination of Cor Triatriatum Sinistrum and Hypoplastic Left Heart Syndrome in Meckel-Gruber Syndrome: A Case Report.

Published in:

Pediatric & Developmental Pathology, 2009, v. 12, n. 5, p. 404, doi. 10.2350/09-02-0614-CR.1

By:

Taweevisit, Mana;
Treetipsatit, Jitsupa;
Tantbirojn, Patou;
Thorner, Paul Scott

Publication type:

Article

Unilateral Forelimb Polydactyly (Type II) with Contracted Tendon in a Female Calf and its Correction by Surgical Intervention.

Published in:

Iranian Journal of Veterinary Surgery, 2023, v. 18, n. 2, p. 154, doi. 10.30500/ivsa.2023.386871.1337

By:

Seydi, Niloofar;
Ghashghaii, Ali

Publication type:

Article

Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

Published in:

2024

By:

Yared, Georges;
Ghazal, Kariman;
Younis, Ali;
Alakrah, Wardah;
Massaad, Christopher;
Hajj, Khodor Al;
El Hajjar, Charlotte;
Matar, Maroun

Publication type:

Case Study

Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review.

Published in:

SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X241255244

By:

Pradhan, Nomina

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

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.

Published in:

Hereditas, 2017, p. 1, doi. 10.1186/s41065-017-0040-6

By:

Xingyan Yang;
Quankuan Shen;
Xierzhatijiang Sulaiman;
Hequn Liu;
Minsheng Peng;
Yaping Zhang

Publication type:

Article

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Published in:

Bone Research, 2024, v. 12, n. 1, p. 1, doi. 10.1038/s41413-024-00322-y

By:

Wang, Han;
Chen, Xiumin;
Meng, Xiaolu;
Cao, Yixuan;
Han, Shirui;
Liu, Keqiang;
Zhao, Ximeng;
Zhao, Xiuli;
Zhang, Xue

Publication type:

Article

Polydactyly.

Published in:

Bulletin of the Hospital for Joint Diseases, 2013, v. 71, n. 1, p. 17

By:

Guo, Bev;
Lee, Steven K.;
Paksima, Nader

Publication type:

Article

Orthopaedic Chief Resident Grand Rounds Presentations.

Published in:

Bulletin of the Hospital for Joint Diseases, 2013, v. 71, n. 1, p. 5

By:

Cohn, Randy M.;
Gross, Steven C.

Publication type:

Article

BARDET-BIEDL SYNDROME: A CASE REPORT.

Published in:

2022

By:

ISLAM A.;
RAHMAN M. M.;
DATTA P. K.;
SAJIB M. K. H.;
IMRAN M. R. A.;
HAQUE M. M.;
SAIKOT M. A. M.;
KHAN M. S.;
KHAN M. A. D.;
SAKIB K. N.;
MITRA A.

Publication type:

Case Study