Cocca A - Search Results

1

Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England.

Holder P, Cheetham T, Cocca A, Chinnery H, Chudleigh J. Holder P, et al. Among authors: cocca a. Int J Neonatal Screen. 2021 Oct 13;7(4):64. doi: 10.3390/ijns7040064. Int J Neonatal Screen. 2021. PMID: 34698074 Free PMC article.

2

A challenging diagnosis of the PIK3CA-related overgrowth spectrum.

Sabir AH, Cocca A, Cheung M, Irving M. Sabir AH, et al. Among authors: cocca a. 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.

3

Achondroplasia Foramen Magnum Score: screening infants for stenosis.

Cheung MS, Irving M, Cocca A, Santos R, Shaunak M, Dougherty H, Siddiqui A, Gringras P, Thompson D. Cheung MS, et al. Among authors: cocca a. Arch Dis Child. 2021 Feb;106(2):180-184. doi: 10.1136/archdischild-2020-319625. Epub 2020 Sep 3. Arch Dis Child. 2021. PMID: 32883660

4

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS, Cocca A, Jansson M, Lillis S, Patel Y, Yau S, Hall CM, Offiah AC, Irving M. Sabir AH, et al. Among authors: cocca a. BMC Med Genomics. 2021 Jun 6;14(1):148. doi: 10.1186/s12920-021-00993-0. BMC Med Genomics. 2021. PMID: 34092239 Free PMC article.

5

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. Among authors: cocca a. 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

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. Among authors: cocca a. Clin Dysmorphol. 2021 Jul 1;30(3):142-146. doi: 10.1097/MCD.0000000000000373. Clin Dysmorphol. 2021. PMID: 34016807

7

The Evidence for Fertility Preservation in Pediatric Klinefelter Syndrome.

Pook CJ, Cocca A, Grandone A, Al-Hussini M, Lam W. Pook CJ, et al. Among authors: cocca a. Front Reprod Health. 2021 Aug 3;3:629179. doi: 10.3389/frph.2021.629179. eCollection 2021. Front Reprod Health. 2021. PMID: 36304035 Free PMC article. Review.

8

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.

Cocca A, Thompson D, Rahim Z, Irving M, Farquhar M, Santos R, Cheung MS. Cocca A, et al. Br J Neurosurg. 2023 Jun;37(3):409-412. doi: 10.1080/02688697.2020.1817315. Epub 2020 Sep 12. Br J Neurosurg. 2023. PMID: 32924616

9

Presentation of cardiogenic shock with pulmonary hypertension and arrhythmia secondary to foramen magnum stenosis in a patient with achondroplasia.

Gavela J, Sharma S, Thompson D, Cocca A, Thiruchelvam T, Moledina S. Gavela J, et al. Among authors: cocca a. J Paediatr Child Health. 2022 Oct;58(10):1872-1875. doi: 10.1111/jpc.16005. Epub 2022 May 5. J Paediatr Child Health. 2022. PMID: 35510831 No abstract available.

10

Primary school children's health and its association with physical fitness development and health-related factors.

Ruedl G, Cocca A, Wirnitzer KC, Tanous D, Drenowatz C, Niedermeier M. Ruedl G, et al. Among authors: cocca a. AIMS Public Health. 2023 Dec 4;11(1):1-18. doi: 10.3934/publichealth.2024001. eCollection 2024. AIMS Public Health. 2023. PMID: 38617409 Free PMC article.

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