Hall CM - Search Results

1

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ. Parker MJ, et al. Among authors: hall cm. Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567925

2

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.

Wilson LC, Hall CM. Wilson LC, et al. Among authors: hall cm. Semin Musculoskelet Radiol. 2002 Dec;6(4):273-83. doi: 10.1055/s-2002-36726. Semin Musculoskelet Radiol. 2002. PMID: 12541184 Review.

3

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y. Horsnell K, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. doi: 10.1016/j.ejmg.2006.01.004. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497573

4

Cranio-osteoarthropathy in sibs.

Dabir T, Sills AM, Hall CM, Bennett C, Wilson LC, Hennekam RCM. Dabir T, et al. Among authors: hall cm. Clin Dysmorphol. 2007 Jul;16(3):197-201. doi: 10.1097/MCD.0b013e32801470d8. Clin Dysmorphol. 2007. PMID: 17551338

5

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Mansour S, et al. Among authors: hall cm. Eur J Hum Genet. 2012 Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473091 Free PMC article.

6

Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.

Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J. Deshpande C, et al. Among authors: hall cm. Clin Dysmorphol. 2006 Apr;15(2):111-3. doi: 10.1097/01.mcd.0000194408.30794.2f. Clin Dysmorphol. 2006. PMID: 16531739

7

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Aldred MA, et al. Am J Med Genet. 2002 Nov 22;113(2):167-72. doi: 10.1002/ajmg.10751. Am J Med Genet. 2002. PMID: 12407707

8

Nosology and classification of genetic skeletal disorders: 2010 revision.

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Warman ML, et al. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438135 Free PMC article. Review.

9

Clinical phenotype of lathosterolosis.

Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G. Rossi M, et al. Among authors: hall cm. Am J Med Genet A. 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. Am J Med Genet A. 2007. PMID: 17853487

10

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC. Sousa SB, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3186-94. doi: 10.1002/ajmg.a.32576. Am J Med Genet A. 2008. PMID: 19012331

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