Hall C - Search Results

1

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. Among authors: hall c. 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

2

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

3

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.

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

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. Among authors: hall c. Am J Med Genet. 2002 Nov 22;113(2):167-72. doi: 10.1002/ajmg.10751. Am J Med Genet. 2002. PMID: 12407707

7

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. 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

8

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Hall CM, Liu B, Haworth A, Reed L, Pryce J, Mansour S. Hall CM, et al. Eur J Med Genet. 2021 Mar;64(3):104162. doi: 10.1016/j.ejmg.2021.104162. Epub 2021 Feb 7. Eur J Med Genet. 2021. PMID: 33567347

9

The phenotype of survivors of campomelic dysplasia.

Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. Mansour S, et al. Among authors: hall c. J Med Genet. 2002 Aug;39(8):597-602. doi: 10.1136/jmg.39.8.597. J Med Genet. 2002. PMID: 12161603 Free PMC article. No abstract available.

10

International nosology and classification of constitutional disorders of bone (2001).

Hall CM. Hall CM. Am J Med Genet. 2002 Nov 15;113(1):65-77. doi: 10.1002/ajmg.10828. Am J Med Genet. 2002. PMID: 12400068

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