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Autor: M E, Porteous, D R, Goudie

Publikováno v: Journal of Medical Genetics. 28:44-47

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b757842a74f8dd002b0b27e56d1d73c8
https://doi.org/10.1136/jmg.28.1.44

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Growth and skeletal development in families with NOGGIN gene mutations

Autor: C D, Oxley, R, Rashid, D R, Goudie, G, Stranks, D U, Baty, W, Lam, C J, Kelnar, S F, Ahmed

Publikováno v: Hormone research. 69(4)

There is a scarcity of data on height as well as bone densitometry in humans with NOGGIN mutations.In 2 families with symphalangism, anthropometry, bone densitometry and genetic analysis of the NOGGIN gene were performed.In family A, the height stand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::97214621c6e04bb5d22181b6bf8783f7
https://pubmed.ncbi.nlm.nih.gov/18204269

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An investigation of the Peutz-Jeghers gene (LKB1) in sporadic breast and colon cancers

Autor: S Defres, D U Baty, F A Carey, L F Forster, D R Goudie

Aims —To explore the role of the Peutz-Jeghers gene (LKB1) in sporadic breast and colon cancers. Methods —Thirty consecutive sporadic carcinomas of the breast and 23 of the colon were selected. DNA was extracted from paraffin wax embedded tissue

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a7d6aad689a0ef4d391e0908801e65
https://europepmc.org/articles/PMC1731085/

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Analysis of four microsatellite markers on the long arm of chromosome 9 by meiotic recombination in flow-sorted single sperm

Autor: R A, Furlong, D R, Goudie, N P, Carter, J E, Lyall, N A, Affara, M A, Ferguson-Smith

Publikováno v: American journal of human genetics. 52(6)

Meiotic recombination in flow-sorted single sperm was used to analyze four highly polymorphic microsatellite markers on the long arm of chromosome 9. The microsatellites comprised three tightly linked markers: 9CMP1 (D9S109), 9CMP2 (D9S127), and D9S5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a4f076e5d9702c7d5692ccf24fb40ad5
https://pubmed.ncbi.nlm.nih.gov/8503451

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Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth

Autor: J L Tolmie, R C Shepherd, D R Goudie

Publikováno v: Journal of Medical Genetics. 26:470-472

We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed2f37e6fe17adae2eeed16690643b0
https://doi.org/10.1136/jmg.26.7.470

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