McGowan-Jordan J - Search Results

1

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Yu AC, Zambrano RM, Cristian I, Price S, Bernhard B, Zucker M, Venkateswaran S, McGowan-Jordan J, Armour CM. Yu AC, et al. Am J Med Genet A. 2017 Jun;173(6):1593-1600. doi: 10.1002/ajmg.a.38241. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440577

2

A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

Armour CM, McGowan-Jordan J, Lawrence SE, Bouchard A, Basik M, Allanson JE. Armour CM, et al. Clin Dysmorphol. 2008 Jan;17(1):23-26. doi: 10.1097/MCD.0b013e3282f16991. Clin Dysmorphol. 2008. PMID: 18049076

3

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR. Allanson J, et al. Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821852

4

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. Argiropoulos B, et al. Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416596

5

Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion.

Castle AMR, Ramien ML, Kanigsberg N, El Demellawy D, McGowan-Jordan J, Beaulieu Bergeron M, Armour CM. Castle AMR, et al. Among authors: mcgowan jordan j. Pediatr Dermatol. 2022 Jan;39(1):107-111. doi: 10.1111/pde.14850. Epub 2021 Dec 20. Pediatr Dermatol. 2022. PMID: 34929758

6

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.

Al-Hertani W, McGowan-Jordan J, Allanson JE. Al-Hertani W, et al. Am J Med Genet A. 2012 Jun;158A(6):1452-4. doi: 10.1002/ajmg.a.35354. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585428

7

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.

Honeywell C, Argiropoulos B, Douglas S, Blumenthal AL, Allanson J, McGowan-Jordan J, McCready ME. Honeywell C, et al. Am J Med Genet A. 2012 Jun;158A(6):1262-8. doi: 10.1002/ajmg.a.35286. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581752

8

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.

Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. Al-Hertani W, et al. Am J Med Genet A. 2013 Jan;161A(1):153-7. doi: 10.1002/ajmg.a.35491. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239640

9

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240

10

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.

Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE. Armstrong L, et al. Am J Med Genet A. 2003 Jan 1;116A(1):71-6. doi: 10.1002/ajmg.a.10727. Am J Med Genet A. 2003. PMID: 12476455 Review.

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