Robson CD - Search Results

1

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH. Stadelmaier RT, et al. Among authors: robson cd. Am J Med Genet A. 2021 Dec;185(12):3770-3783. doi: 10.1002/ajmg.a.62450. Epub 2021 Aug 9. Am J Med Genet A. 2021. PMID: 34369642 Free PMC article.

2

Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia.

Rahbar R, Robson CD, Mulliken JB, Schwartz L, Dicanzio J, Kenna MA, McGill TJ, Healy GB. Rahbar R, et al. Among authors: robson cd. Arch Otolaryngol Head Neck Surg. 2001 Mar;127(3):265-71. doi: 10.1001/archotol.127.3.265. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11255470

3

The presentation and management of nasal dermoid: a 30-year experience.

Rahbar R, Shah P, Mulliken JB, Robson CD, Perez-Atayde AR, Proctor MR, Kenna MA, Scott MR, McGill TJ, Healy GB. Rahbar R, et al. Among authors: robson cd. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):464-71. doi: 10.1001/archotol.129.4.464. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707196

4

Cockayne syndrome: the developing phenotype.

Tan WH, Baris H, Robson CD, Kimonis VE. Tan WH, et al. Among authors: robson cd. Am J Med Genet A. 2005 Jun 1;135(2):214-6. doi: 10.1002/ajmg.a.30731. Am J Med Genet A. 2005. PMID: 15887300

5

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis VE. Quintero-Rivera F, et al. Among authors: robson cd. Am J Med Genet A. 2006 Jun 15;140(12):1337-8. doi: 10.1002/ajmg.a.31277. Am J Med Genet A. 2006. PMID: 16691624 No abstract available.

6

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID. Kenna MA, et al. Among authors: robson cd. Am J Med Genet A. 2007 Jul 15;143A(14):1560-6. doi: 10.1002/ajmg.a.31706. Am J Med Genet A. 2007. PMID: 17455295

7

Temporal bone abnormalities in children with GJB2 mutations.

Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD. Kenna MA, et al. Among authors: robson cd. Laryngoscope. 2011 Mar;121(3):630-5. doi: 10.1002/lary.21414. Epub 2011 Feb 4. Laryngoscope. 2011. PMID: 21298644 Free PMC article.

8

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.

Andersen RE, Alkuraya IF, Ajeesh A, Sakamoto T, Mena EL, Amr SS, Romi H, Kenna MA, Robson CD, Wilch ES, Nalbandian K, Piña-Aguilar R, Walsh CA, Morton CC. Andersen RE, et al. Among authors: robson cd. Hum Genet. 2024 Jul;143(7):921-938. doi: 10.1007/s00439-024-02693-y. Epub 2024 Jul 26. Hum Genet. 2024. PMID: 39060644 Free PMC article.

9

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Heidary G, et al. Among authors: robson cd. J Neuroophthalmol. 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076. J Neuroophthalmol. 2014. PMID: 24284555 Review.

10

Neuroimaging of Children With Surgically Treated Hydrocephalus: A Practical Approach.

Robson CD, MacDougall RD, Madsen JR, Warf BC, Robertson RL. Robson CD, et al. AJR Am J Roentgenol. 2017 Feb;208(2):413-419. doi: 10.2214/AJR.16.16870. Epub 2016 Nov 15. AJR Am J Roentgenol. 2017. PMID: 27845838 Clinical Trial.

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