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Author/Creator Chitayat, D

2. A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. Issue 1 (1st January 2002)

Authors:
Pace, J M; Chitayat, D; Atkinson, M; Wilcox, W R; Schwarze, U; Byers, P H
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 1(2002)
Page Start:
23
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Issue 3 (13th October 2016)

Authors:
Balasubramanian, M; Lord, H; Levesque, S; Guturu, H; Thuriot, F; Sillon, G; Wenger, A M; Sureka, D L; Lester, T; Johnson, D S; Bowen, J; Calhoun, A R; Viskochil, D H; Bejerano, G; Bernstein, J A; Chitayat, D
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 3(2017)
Page Start:
157
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Issue 6 (2nd April 2009)

Authors:
Lacbawan, F; Solomon, B D; Roessler, E; El-Jaick, K; Domené, S; Vélez, J I; Zhou, N; Hadley, D; Balog, J Z; Long, R; Fryer, A; Smith, W; Omar, S; McLean, S D; Clarkson, K; Lichty, A; Clegg, N J; Delgado, M R; Levey, E; Stashinko, E
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 6(2009)
Page Start:
389
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Issue 5 (28th April 2006)

Authors:
Seifert, W; Holder-Espinasse, M; Spranger, S; Hoeltzenbein, M; Rossier, E; Dollfus, H; Lacombe, D; Verloes, A; Chrzanowska, K H; Maegawa, G H B; Chitayat, D; Kotzot, D; Huhle, D; Meinecke, P; Albrecht, B; Mathijssen, I; Leheup, B; Raile, K; Hennies, H C; Horn, D
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
e22
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗