Sefiani A - Search Results

1

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: sefiani a. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.

2

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frézal J, Maroteaux P, Hors-Cayla MC. Szpiro-Tapia S, et al. Among authors: sefiani a. Hum Genet. 1988 Dec;81(1):61-3. doi: 10.1007/BF00283731. Hum Genet. 1988. PMID: 3198127

3

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Sefiani A, M'rad R, Simard L, Vincent A, Julier C, Holvoet-Vermaut L, Heuertz S, Dahl N, Stalder JF, Peter MO, et al. Sefiani A, et al. Hum Genet. 1991 Jan;86(3):297-9. doi: 10.1007/BF00202414. Hum Genet. 1991. PMID: 1847690

4

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: sefiani a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941

5

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Sefiani A, Sinnett D, Abel L, Szpiro-Tapia S, Heuertz S, Craig I, Fraser N, Kruse TA, Frydman M, Peter MO, et al. Sefiani A, et al. Hum Genet. 1988 Nov;80(3):282-6. doi: 10.1007/BF01790098. Hum Genet. 1988. PMID: 3192215

6

The gene for incontinentia pigmenti is assigned to Xq28.

Sefiani A, Abel L, Heuertz S, Sinnett D, Lavergne L, Labuda D, Hors-Cayla MC. Sefiani A, et al. Genomics. 1989 Apr;4(3):427-9. doi: 10.1016/0888-7543(89)90350-9. Genomics. 1989. PMID: 2714798

7

Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.

Sefiani A, Heuertz S, Turleau C, Thibaud D, de Grouchy J, Hors-Cayla MC. Sefiani A, et al. Ann Genet. 1989;32(3):149-51. Ann Genet. 1989. PMID: 2817774

8

The anonymous PAS45 probe detects RFLPs in 13q31.

Gross MS, Sefiani A, de Tand MF, Lau YF, Saidi-Mehtar N, Hors-Cayla MC, Frezal J, Van Cong N. Gross MS, et al. Among authors: sefiani a. Ann Genet. 1989;32(2):73-7. Ann Genet. 1989. PMID: 2569289

9

Isolation and characterisation of five new anonymous X-specific probes. One of them detecting a TaqI RFLP.

Belhadj-Kacem N, Heuertz S, Hors-Cayla MC, Saidi-Mehtar N, Sefiani A. Belhadj-Kacem N, et al. Among authors: sefiani a. Ann Genet. 1993;36(3):139-43. Ann Genet. 1993. PMID: 7906932

10

Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.

Chiguer A, Lyahyai J, El Kadiri Y, Cherkaoui Jaouad I, Doubaj Y, Sefiani A. Chiguer A, et al. Among authors: sefiani a. Hemoglobin. 2024 Jun 4:1-4. doi: 10.1080/03630269.2024.2360456. Online ahead of print. Hemoglobin. 2024. PMID: 38831725

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