Dean J - Search Results

1

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Hardcastle A, et al. Among authors: dean j. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. Am J Med Genet A. 2022. PMID: 35904974 Free PMC article.

2

Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.

Turnpenny PD, Johnston AW, Dean JC, Haites NE, Couzin DA, Stephen GS. Turnpenny PD, et al. Among authors: dean jc. Clin Dysmorphol. 1992 Apr;1(2):103-9. Clin Dysmorphol. 1992. PMID: 1345512 Review.

3

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

Turnpenny PD, Dean JC, Duffty P, Reid JA, Carter P. Turnpenny PD, et al. Among authors: dean jc. J Med Genet. 1992 Sep;29(9):659-62. doi: 10.1136/jmg.29.9.659. J Med Genet. 1992. PMID: 1404297 Free PMC article.

4

Recurrent miscarriage, cystic hygroma and incontinentia pigmenti.

Turnpenny PD, Gunasegaran R, Smith NC, Dean JC. Turnpenny PD, et al. Among authors: dean jc. Br J Obstet Gynaecol. 1992 Nov;99(11):920-1. doi: 10.1111/j.1471-0528.1992.tb14443.x. Br J Obstet Gynaecol. 1992. PMID: 1450144 No abstract available.

5

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Turnpenny PD, Dean JC, Auchterlonie IA, Johnston AW. Turnpenny PD, et al. Among authors: dean jc. J Med Genet. 1992 Jun;29(6):428-9. doi: 10.1136/jmg.29.6.428. J Med Genet. 1992. PMID: 1619641 Free PMC article.

6

Ascertainment of myotonic dystrophy through cataract by selective screening.

Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean JC, Haites NE. Kidd A, et al. Among authors: dean jc. J Med Genet. 1995 Jul;32(7):519-23. doi: 10.1136/jmg.32.7.519. J Med Genet. 1995. PMID: 7562963 Free PMC article.

7

A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?

Turnpenny PD, De Silva DC, Gregory DW, Gray ES, Dean JC. Turnpenny PD, et al. Among authors: dean jc. Clin Dysmorphol. 1995 Oct;4(4):324-33. doi: 10.1097/00019605-199510000-00008. Clin Dysmorphol. 1995. PMID: 8574423

8

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.

Dean JC, Moore SJ, Osborne A, Howe J, Turnpenny PD. Dean JC, et al. Clin Genet. 1999 Sep;56(3):216-20. doi: 10.1034/j.1399-0004.1999.560306.x. Clin Genet. 1999. PMID: 10563481

9

Developing diagnostic criteria for the fetal anticonvulsant syndromes.

Dean JC, Moore SJ, Turnpenny PD. Dean JC, et al. Seizure. 2000 Apr;9(3):233-4. doi: 10.1053/seiz.2000.0392. Seizure. 2000. PMID: 10775521 Free article.

10

A clinical study of 57 children with fetal anticonvulsant syndromes.

Moore SJ, Turnpenny P, Quinn A, Glover S, Lloyd DJ, Montgomery T, Dean JC. Moore SJ, et al. Among authors: dean jc. J Med Genet. 2000 Jul;37(7):489-97. doi: 10.1136/jmg.37.7.489. J Med Genet. 2000. PMID: 10882750 Free PMC article.

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