Sabir A - Search Results

1

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.

Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A. Botto LD, et al. Among authors: sabir a. Am J Med Genet A. 2021 Feb;185(2):517-527. doi: 10.1002/ajmg.a.62021. Epub 2021 Jan 4. Am J Med Genet A. 2021. PMID: 33398909

2

Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies.

Buddhdev PK, Sabir A, Kokkinakis M, Irving M, Norman-Taylor F. Buddhdev PK, et al. Among authors: sabir a. Am J Med Genet A. 2020 Jun;182(6):1449-1453. doi: 10.1002/ajmg.a.61573. Epub 2020 Apr 7. Am J Med Genet A. 2020. PMID: 32259397

3

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.

Sabir AH, Dermanis AA, Irving M, Cheung M. Sabir AH, et al. Clin Dysmorphol. 2020 Oct;29(4):177-181. doi: 10.1097/MCD.0000000000000334. Clin Dysmorphol. 2020. PMID: 32639239 No abstract available.

4

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M. Sabir AH, et al. Am J Med Genet A. 2021 Jan;185(1):73-82. doi: 10.1002/ajmg.a.61912. Epub 2020 Oct 14. Am J Med Genet A. 2021. PMID: 33051983

5

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Sabir AH, Singhal J, Man J, Mensah NE, Ahn JW, Cheung MS, Irving M. Sabir AH, et al. Clin Dysmorphol. 2021 Jul 1;30(3):154-158. doi: 10.1097/MCD.0000000000000369. Clin Dysmorphol. 2021. PMID: 33605604

6

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Sabir AH, Sheikh J, Gowda V, Wallis C, Singham S, Durve D, Cocca A, Holder-Espinasse M, Irving M. Sabir AH, et al. Clin Dysmorphol. 2021 Jul 1;30(3):142-146. doi: 10.1097/MCD.0000000000000373. Clin Dysmorphol. 2021. PMID: 34016807

7

Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.

Sabir A, Irving M. Sabir A, et al. Br Med Bull. 2021 Sep 10;139(1):16-35. doi: 10.1093/bmb/ldab017. Br Med Bull. 2021. PMID: 34453435 Review.

8

Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.

Mensah NE, Sabir AH, Bond A, Roworth W, Irving M, Davies AC, Ahn JW. Mensah NE, et al. Among authors: sabir ah. Genet Med. 2022 Apr;24(4):811-820. doi: 10.1016/j.gim.2021.11.021. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34949530 Free article.

9

Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Sabir AH, Singhal J, Man J, Cooper N, Cheung M, Irving M. Sabir AH, et al. Clin Dysmorphol. 2022 Apr 1;31(2):84-90. doi: 10.1097/MCD.0000000000000406. Clin Dysmorphol. 2022. PMID: 35045016 No abstract available.

10

A challenging diagnosis of the PIK3CA-related overgrowth spectrum.

Sabir AH, Cocca A, Cheung M, Irving M. Sabir AH, et al. Clin Dysmorphol. 2022 Oct 1;31(4):211-216. doi: 10.1097/MCD.0000000000000425. Epub 2022 Aug 5. Clin Dysmorphol. 2022. PMID: 36005254 No abstract available.

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