Zobrazeno 1 - 10
of 477
pro vyhledávání: '"postaxial polydactyly"'
Autor:
Chih-Ping Chen, Shin-Wen Chen, Jain-Pei Huang, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 6, Pp 1048-1052 (2022)
Objective: We present rapid confirmation of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postax
Externí odkaz:
https://doaj.org/article/52bdbc90ef2e41da8f5393247b0c53d1
Autor:
Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease. Autosomal recessive variants in DYNC2H1 are associated with short‐rib thora
Externí odkaz:
https://doaj.org/article/f01ce40dc9534065bd30512f67b34751
Akademický článek
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Publikováno v:
Journal of Nature and Science of Medicine, Vol 5, Iss 3, Pp 309-312 (2022)
Pallister–Hall syndrome (PHS) is a rare, autosomal dominant genetic disorder. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, craniofacial anomalies, and other malformations. This case report describes a 5-year-
Externí odkaz:
https://doaj.org/article/85e5718a3673427ba69eea84d1ffa3fa
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 16, Iss 12, Pp AD05-AD07 (2022)
Meckel-Gruber Syndrome (MGS), a rare autosomal recessive malformation syndrome with incidence of one per 13,250-140,000 live birth. It is a classical triad of occipital encephalocele, infantile polycystic kidneys and postaxial polydactyly with associ
Externí odkaz:
https://doaj.org/article/5f287c8802154f498f29d10abd1be261
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal
Externí odkaz:
https://doaj.org/article/92f9613d660447a3a2f098aeef624c5e
Autor:
Kim A Bjorklund, Meghan O'Brien
Publikováno v:
Hand (New York, N.Y.). 17(6)
Background: Surgical excision for postaxial polydactyly type B is advocated to avoid long-term complications. Excision with local anesthesia (LA) in infancy represents a safe and effective treatment for this condition, although general anesthesia (GA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79891593207e0a695102982ddf12e60
https://pubmed.ncbi.nlm.nih.gov/33631987
https://pubmed.ncbi.nlm.nih.gov/33631987
Autor:
Yasir Ali, Faisal Ahmad, Muhammad Farhat Ullah, Noor Ul Haq, M. Inam Ul Haq, Abdul Aziz, Ferjeni Zouidi, M. Ijaz Khan, Sayed M. Eldin
Publikováno v:
Bioengineering, Vol 9, Iss 12, p 749 (2022)
Postaxial Polydactyly (PAP) is a congenital disorder of limb abnormalities characterized by posterior extra digits. Mutations in the N-terminal region of the Zinc finger protein 141 (ZNF141) gene were recently linked with PAP type A. Zinc finger prot
Externí odkaz:
https://doaj.org/article/a5ef5605b23e4e3496d73c3d83f78899
Autor:
K Ravi, Suraj S Hegde
Publikováno v:
APIK Journal of Internal Medicine, Vol 9, Iss 3, Pp 180-182 (2021)
Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of char
Externí odkaz:
https://doaj.org/article/2c28daa80e894f609f0d62f5a9854602