Cabet S - Search Results

1

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Cabet S, Putoux A, Buenerd A, Gueneau L, Reymond A, Thia EWH, Lai AHM, Schindewolf EM, Sanlaville D, Lesca G, Guibaud L. Cabet S, et al. Prenat Diagn. 2020 Jan;40(2):276-281. doi: 10.1002/pd.5589. Epub 2019 Dec 5. Prenat Diagn. 2020. PMID: 31736083 No abstract available.

2

Embryonal tumor of posterior cerebral fossa: false-negative diagnosis by fetal MRI related to misinterpretation of decreased apparent diffusion coefficient.

Cabet S, Meyronet D, Fichez A, di Rocco F, Gauthier-Moulinier H, Guibaud L. Cabet S, et al. Ultrasound Obstet Gynecol. 2019 Apr;53(4):551-553. doi: 10.1002/uog.19095. Ultrasound Obstet Gynecol. 2019. PMID: 29786163 Free article. No abstract available.

3

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Cabet S, Putoux A, Carneiro M, Labalme A, Sanlaville D, Guibaud L, Lesca G. Cabet S, et al. Eur J Med Genet. 2019 Oct;62(10):103726. doi: 10.1016/j.ejmg.2019.103726. Epub 2019 Jul 15. Eur J Med Genet. 2019. PMID: 31319223

4

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L, Labalme A, Marks P, Osio D, Putoux A, Sanlaville D, Lesca G, Vasiljevic A. Chatron N, et al. Among authors: cabet s. Brain. 2019 Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272. Brain. 2019. PMID: 31608932

5

Prenatal imaging diagnosis of PIK3CA-related overgrowth spectrum disorders in first trimester with emphasis on extremities.

Fraissenon A, Cabet S, Fichez A, Abel C, Canaud G, Guibaud L. Fraissenon A, et al. Among authors: cabet s. Ultrasound Obstet Gynecol. 2020 Nov;56(5):780-781. doi: 10.1002/uog.21942. Ultrasound Obstet Gynecol. 2020. PMID: 31816130 Free article. No abstract available.

6

Prenatal imaging patterns of different forms of infantile myofibromatosis.

Fraissenon A, Benchimol G, Cabet S, Brasseur-Daudruy M, Sonigo P, Salomon LJ, Guibaud L. Fraissenon A, et al. Among authors: cabet s. Ultrasound Obstet Gynecol. 2020 Nov;56(5):782-784. doi: 10.1002/uog.21964. Ultrasound Obstet Gynecol. 2020. PMID: 31909539 Free article. No abstract available.

7

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Cabet S, Lesca G, Labalme A, Des Portes V, Guibaud L, Sanlaville D, Pons L. Cabet S, et al. Eur J Med Genet. 2020 Jun;63(6):103897. doi: 10.1016/j.ejmg.2020.103897. Epub 2020 Feb 22. Eur J Med Genet. 2020. PMID: 32092440

8

Two different prenatal imaging cerebral patterns of tubulinopathy.

Cabet S, Karl K, Garel C, Delius M, Hartung J, Lesca G, Chaoui R, Guibaud L. Cabet S, et al. Ultrasound Obstet Gynecol. 2021 Mar;57(3):493-497. doi: 10.1002/uog.22010. Ultrasound Obstet Gynecol. 2021. PMID: 32149430 Free article.

9

[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development].

Cabet S, Guibaud L, Sanlaville D. Cabet S, et al. Med Sci (Paris). 2020 Oct;36(10):866-871. doi: 10.1051/medsci/2020157. Epub 2020 Oct 7. Med Sci (Paris). 2020. PMID: 33026328 Free article. Review. French.

10

Septic Arthritis of Facet Joint in Children: A Systematic Review and a 10-year Consecutive Case Series.

Cabet S, Perge K, Ouziel A, Lacalm A, Vandergugten S, Guibaud L, Ferry T, Gillet Y, Ploin D. Cabet S, et al. Pediatr Infect Dis J. 2021 May 1;40(5):411-417. doi: 10.1097/INF.0000000000003031. Pediatr Infect Dis J. 2021. PMID: 33538543

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

38 results

Search Page

Filters