Martini N - Search Results

1

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T, Fockens E, Kouton L, Delmont E, Martini N, Levy N, Attarian S, Bonello-Palot N. Benquey T, et al. Among authors: martini n. J Neuromuscul Dis. 2020;7(4):505-510. doi: 10.3233/JND-190460. J Neuromuscul Dis. 2020. PMID: 32538861

2

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Bacquet J, et al. Among authors: martini n. BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632. BMJ Open. 2018. PMID: 30373780 Free PMC article.

3

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P. Badens C, et al. Among authors: martini n. Am J Med Genet A. 2006 Oct 15;140(20):2212-5. doi: 10.1002/ajmg.a.31400. Am J Med Genet A. 2006. PMID: 16955409

4

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: martini n. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

5

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C. Kirk EP, et al. Among authors: martini n. Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1. Clin Genet. 2009. PMID: 19018795 No abstract available.

6

Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis.

Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D. Badens C, et al. Among authors: martini n. Hemoglobin. 1999 Nov;23(4):339-44. doi: 10.3109/03630269909090749. Hemoglobin. 1999. PMID: 10569722

7

Four globin gene defects in a healthy child.

Badens C, Merono F, Martini N, Lena-Russo D, Gulbis B, Thuret I. Badens C, et al. Among authors: martini n. Haematologica. 2002 Nov;87(11):ELT42. Haematologica. 2002. PMID: 12414363 No abstract available.

8

Outcome of a school screening programme for carriers of haemoglobin disease.

Lena-Russo D, Badens C, Aubinaud M, Merono F, Paolasso C, Martini N, Mattei JF. Lena-Russo D, et al. Among authors: martini n. J Med Screen. 2002;9(2):67-9. doi: 10.1136/jms.9.2.67. J Med Screen. 2002. PMID: 12133925

9

A novel mechanism for thalassaemia intermedia.

Badens C, Mattei MG, Imbert AM, Lapouméroulie C, Martini N, Michel G, Lena-Russo D. Badens C, et al. Among authors: martini n. Lancet. 2002 Jan 12;359(9301):132-3. doi: 10.1016/s0140-6736(02)07338-5. Lancet. 2002. PMID: 11809258

10

The degeneration of locus coeruleus occurring during Alzheimer's disease clinical progression: a neuroimaging follow-up investigation.

Galgani A, Lombardo F, Frijia F, Martini N, Tognoni G, Pavese N, Giorgi FS. Galgani A, et al. Among authors: martini n. Brain Struct Funct. 2024 Apr 16. doi: 10.1007/s00429-024-02797-1. Online ahead of print. Brain Struct Funct. 2024. PMID: 38625557

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