Wilson LC - Search Results

1

Major skull manifestations of skeletal dysplasias - pictorial essay.

Calder AD, Gaunt T, Hickson M, Mankad K, Wilson LC. Calder AD, et al. Among authors: wilson lc. Pediatr Radiol. 2020 Nov;50(12):1658-1668. doi: 10.1007/s00247-019-04473-7. Epub 2020 Nov 2. Pediatr Radiol. 2020. PMID: 33135136 Review.

2

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

Menzies L, Cullup T, Calder A, Wilson L, Faravelli F. Menzies L, et al. Clin Dysmorphol. 2019 Oct;28(4):219-223. doi: 10.1097/MCD.0000000000000291. Clin Dysmorphol. 2019. PMID: 31348018 No abstract available.

3

Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Naot D, Wilson LC, Allgrove J, Adviento E, Piec I, Musson DS, Cundy T, Calder AD. Naot D, et al. Among authors: wilson lc. Bone. 2020 Jan;130:115098. doi: 10.1016/j.bone.2019.115098. Epub 2019 Oct 23. Bone. 2020. PMID: 31655221

4

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Steel E, Hurst JA, Cullup T, Calder A, Sivakumar B, Shah P, Wilson LC. Steel E, et al. Among authors: wilson lc. Clin Dysmorphol. 2020 Apr;29(2):73-80. doi: 10.1097/MCD.0000000000000311. Clin Dysmorphol. 2020. PMID: 31895055

5

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.

6

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Ashraf T, Collinson MN, Fairhurst J, Wang R, Wilson LC, Foulds N. Ashraf T, et al. Among authors: wilson lc. Am J Med Genet A. 2015 Dec;167A(12):3153-60. doi: 10.1002/ajmg.a.37336. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333682

7

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: wilson lc. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.

8

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.

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

9

Albright's hereditary osteodystrophy.

Wilson LC. Wilson LC. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:671-3. doi: 10.1515/jpem.2006.19.s2.671. J Pediatr Endocrinol Metab. 2006. PMID: 16789633 No abstract available.

10

Cranio-osteoarthropathy in sibs.

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

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