Works matching Polydactyly and syndactyly
Results: 137
A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway.
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- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.542004
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- Article
Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.
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- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06417-y
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- Publication type:
- Article
Teratogenic Relationship between Polydactyly, Syndactyly and Cleft Hand.
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- Journal of Hand Surgery (17531934), 1983, v. 15, n. 2, p. 201, doi. 10.1016/0266-7681(90)90125-N
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- Article
Maternal exposure to ambient SO2 and risk of polydactyly and syndactyly: a population-based case-control study in Liaoning Province, China.
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- Environmental Science & Pollution Research, 2021, v. 28, n. 9, p. 11289, doi. 10.1007/s11356-020-11351-5
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- Publication type:
- Article
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1895
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- Article
A Dermatoglyphic Study in Cases of Polydactyly and Syndactyly.
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- Anil Aggrawal's Internet Journal of Forensic Medicine & Toxicology, 2010, v. 11, n. 1, p. 4
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- Article
Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: A common mechanism of disruption leads to divergent phenotypes.
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- Development, Growth & Differentiation, 2007, v. 49, n. 6, p. 533, doi. 10.1111/j.1440-169X.2007.00949.x
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- Article
Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria.
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- GMS Medizinische Informatik, Biometrie und Epidemiologie, 2009, v. 5, n. 2, p. 1
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- Article
Brown Tumour of Posterior Maxilla Associated with Polydactyly, Syndactyly and Cardiac Anomalies: A Unique Case Report.
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- 2014
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- Publication type:
- Case Study
足背六边形皮瓣在第 4、5 趾并趾伴 小趾多趾畸形矫形中的应用.
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- Chinese Journal of Reparative & Reconstructive Surgery, 2020, v. 34, n. 12, p. 1590, doi. 10.7507/1002-1892.202007076
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- Article
A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.
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- Clinical Genetics, 1974, v. 6, n. 1, p. 51, doi. 10.1111/j.1399-0004.1974.tb00630.x
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- Publication type:
- Article
Surgical treatment of polydactyly and syndactyly during the 4th century AD.
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- Acta Chirurgica Belgica, 2019, v. 119, n. 1, p. 64, doi. 10.1080/00015458.2018.1534392
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- Publication type:
- Article
A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
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- Clinical Genetics, 2012, v. 82, n. 5, p. 502, doi. 10.1111/j.1399-0004.2012.01866.x
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- Publication type:
- Article
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 683, doi. 10.1002/ajmg.a.36927
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- Article
A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2031, doi. 10.1002/ajmg.a.35473
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- Publication type:
- Article
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
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- Clinical Genetics, 2005, v. 67, n. 5, p. 429, doi. 10.1111/j.1399-0004.2005.00431.x
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- Article
Complex bilateral polysyndactyly featuring a triplet of delta phalanges in a syndactylised digit.
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- 2002
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- Publication type:
- journal article
Petogodišnje iskustvo u liječenju sindaktilije i polidaktilije šake s osvrtom na zadovoljstvo roditelja bolesnika.
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- Paediatria Croatica, 2017, v. 61, n. 4, p. 178, doi. 10.13112/pc.511
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- Publication type:
- Article
Statewide Prevalence of Congenital Hand Anomalies: A 6-Year Review of Patients Presenting to Mississippi's Only Children's Hospital.
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- ePlasty: Open Access Journal of Plastic Surgery, 2024, p. 7
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- Publication type:
- Article
Epidemiology of Congenital Hand Anomalies at a Single Center in Mainland China: An Analysis of 1,415 Cases.
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- Journal of Hand Surgery (Asian-Pacific Volume), 2025, v. 30, n. 1, p. 10, doi. 10.1142/S2424835525500225
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- Publication type:
- Article
Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.
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- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0248105
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- Publication type:
- Article
Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.
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- Developmental Dynamics, 2021, v. 250, n. 9, p. 1220, doi. 10.1002/dvdy.310
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- Article
The molecular genetics of human appendicular skeleton.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 5, p. 1195, doi. 10.1007/s00438-022-01930-1
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- Publication type:
- Article
Revisión de la descripción y tratamiento de las anomalías congénitas más frecuentes de la mano.
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- Cirugía Plástica Ibero-Latinoamericana, 2017, v. 43, n. Supp1, p. 85, doi. 10.4321/S0376-78922017000300015
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- Publication type:
- Article
Clinical features and teratogenic mechanisms of congenital absence of digits.
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- Development, Growth & Differentiation, 2007, v. 49, n. 6, p. 523, doi. 10.1111/j.1440-169X.2007.00939.x
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- Publication type:
- Article
Acrocallosal syndrome in fetus: focus on additional brain abnormalities.
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- Acta Neuropathologica, 2008, v. 115, n. 1, p. 151, doi. 10.1007/s00401-007-0249-y
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- Publication type:
- Article
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
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- Child's Nervous System, 2015, v. 31, n. 3, p. 465, doi. 10.1007/s00381-014-2589-y
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- 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.
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- European Journal of Pediatrics, 2013, v. 172, n. 11, p. 1467, doi. 10.1007/s00431-013-2071-y
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- Publication type:
- Article
Abductor pollicis brevis in fetuses: classification, measurements, and surgical implications.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2022, v. 16, p. S117
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- Publication type:
- Article
A novel GLI3 Mutation Affecting the Zinc Finger Domain Leads to Isolated Polydactyly.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0110-9
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- Publication type:
- Article
Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018.
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- Journal of Maternal-Fetal & Neonatal Medicine, 2022, v. 35, n. 4, p. 745, doi. 10.1080/14767058.2020.1731459
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- Publication type:
- Article
TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1486
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- Publication type:
- Article
Partial trisomy 13: A case report, verification of the phenotype and review of the literature.
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- 2008
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- Publication type:
- Case Study
Routine 36‐week scan: diagnosis of fetal abnormalities.
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- Ultrasound in Obstetrics & Gynecology, 2025, v. 65, n. 4, p. 427, doi. 10.1002/uog.29218
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- Publication type:
- Article
Polidaktilide Klinik Değerlendirme ve Tedavi.
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- Turkish Journal of Plastic Surgery, 2017, v. 25, n. 2, p. 73, doi. 10.5152/TurkJPlastSurg.2017.2164
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- Publication type:
- Article
Oro-facio-digital syndrome type 1: case report.
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- 2011
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- Publication type:
- Journal Article
Oro-Faslo-Dijital Sendrom Tip 1: Olgu Sunumu.
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- 2011
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- Publication type:
- Case Study
Evaluation of the stapedial tendon growth dynamic in human fetuses.
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- Surgical & Radiologic Anatomy, 2019, v. 41, n. 7, p. 833, doi. 10.1007/s00276-019-02237-4
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- Publication type:
- Article
Hand and Upper Limb Malformations in Italy: A Multicentric Study.
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- Journal of Hand Surgery (Asian-Pacific Volume), 2021, v. 26, n. 3, p. 345, doi. 10.1142/S2424835521500302
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- Publication type:
- Article
Maternal Cigarette Smoking and Congenital Upper and Lower Limb Differences: A Systematic Review and Meta-Analysis.
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- Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4181, doi. 10.3390/jcm12134181
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- Publication type:
- Article
Methylphenidate use in pregnancy and lactation: a systematic review of evidence.
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- British Journal of Clinical Pharmacology, 2014, v. 77, n. 1, p. 96, doi. 10.1111/bcp.12138
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- Publication type:
- Article
Unusual Magnetic Resonance Imaging Findings of the Sellar Region in Subjects with Hypopituitarism: Report of 4 Cases.
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- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 1, p. 35
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- Publication type:
- Article
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 1, p. 4, doi. 10.1111/cga.12173
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- Publication type:
- Article
Prevalence of congenital limb defects: Data from birth defects registries in three provinces in Southern Thailand.
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- Congenital Anomalies, 2016, v. 56, n. 5, p. 203, doi. 10.1111/cga.12154
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- Publication type:
- Article
Basal cell nevus syndrome: A rare entity.
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- Indian Journal of Dermatology, Venereology & Leprology, 2012, v. 78, n. 5, p. 666, doi. 10.4103/0378-6323.100555
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- Article
Poland syndrome (anomaly) with congenital hemangioma: a new association.
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- 2006
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- Publication type:
- journal article
Functional classification and mutation analysis of a synpolydactyly kindred.
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- Experimental & Therapeutic Medicine, 2014, v. 8, n. 5, p. 1569, doi. 10.3892/etm.2014.1957
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- Publication type:
- Article
Wassel Tip III Polidaktilide Modifiye Bilhaut-Cloquet Yöntemi ile Onarım.
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- Journal of Kartal Training & Research Hospital / Kartal Egitim ve Arastirma Hastanesi Tip Dergisi, 2013, v. 24, n. 1, p. 46, doi. 10.5505/jkartaltr.2013.49379
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- Article
Nystagmus in Laurence-Moon-Biedl Syndrome.
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- Case Reports in Ophthalmological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/439409
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- Publication type:
- Article
Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1187, doi. 10.1093/hmg/ddg129
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- Publication type:
- Article