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Results: 1 to 20 of 99

1.

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.

Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J, Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C.

Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748.

PMID:
21108402
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

Roques G, Munzer M, Barthez MA, Beaufils S, Beaupain B, Flood T, Keren B, Bellanné-Chantelot C, Donadieu J.

Pediatr Blood Cancer. 2014 Jun;61(6):1041-8. doi: 10.1002/pbc.24964. Epub 2014 Jan 30. Review.

PMID:
24482108
[PubMed - indexed for MEDLINE]
3.

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH.

Eur J Pediatr. 2010 Jun;169(6):661-6. doi: 10.1007/s00431-010-1150-6. Epub 2010 Feb 25.

PMID:
20182745
[PubMed - indexed for MEDLINE]
4.

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.

J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.

PMID:
18611981
[PubMed - indexed for MEDLINE]
5.

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

Carlsson G, van't Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, Trebińska A, Grzybowska E, Palmblad J, Dahl N, Nordenskjöld M, Fadeel B, Henter JI.

J Intern Med. 2008 Oct;264(4):388-400. doi: 10.1111/j.1365-2796.2008.01982.x. Epub 2008 May 29.

PMID:
18513342
[PubMed - indexed for MEDLINE]
6.

[Neurological findings in severe congenital neutropenia with HAX1 mutations].

Ishikawa N, Kobayashi M.

No To Hattatsu. 2009 Nov;41(6):415-9. Japanese.

PMID:
19928538
[PubMed - indexed for MEDLINE]
7.

Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.

Matsubara K, Imai K, Okada S, Miki M, Ishikawa N, Tsumura M, Kato T, Ohara O, Nonoyama S, Kobayashi M.

Haematologica. 2007 Dec;92(12):e123-5.

PMID:
18055975
[PubMed - indexed for MEDLINE]
Free Article
8.

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Smith BN, Ancliff PJ, Pizzey A, Khwaja A, Linch DC, Gale RE.

Br J Haematol. 2009 Mar;144(5):762-70. doi: 10.1111/j.1365-2141.2008.07493.x. Epub 2008 Nov 22.

PMID:
19036076
[PubMed - indexed for MEDLINE]
9.

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C.

Blood. 2008 May 15;111(10):4954-7. doi: 10.1182/blood-2007-11-120667. Epub 2008 Mar 12.

PMID:
18337561
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

Lanciotti M, Indaco S, Bonanomi S, Coliva T, Mastrodicasa E, Caridi G, Calvillo M, Dufour C.

Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370. No abstract available.

PMID:
20065084
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K.

Nat Genet. 2007 Jan;39(1):86-92. Epub 2006 Dec 24.

PMID:
17187068
[PubMed - indexed for MEDLINE]
12.

Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).

Alizadeh Z, Fazlollahi MR, Houshmand M, Maddah M, Chavoshzadeh Z, Hamidieh AA, Shamsian BS, Eshghi P, Bolandghamat Pour S, Sadaaie Jahromi H, Mansouri M, Movahedi M, Nayebpour M, Pourpak Z, Moin M.

Iran J Allergy Asthma Immunol. 2013 Mar;12(1):86-92. doi: 012.01/ijaai.8692.

PMID:
23454784
[PubMed - indexed for MEDLINE]
Free Article
13.

Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.

Patiroglu T, Gungor HE, Triot A, Unal E.

Genet Couns. 2013;24(3):253-8.

PMID:
24341138
[PubMed - indexed for MEDLINE]
14.

Association of HAX1 deficiency with neurological disorder.

Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C.

Neuropediatrics. 2007 Oct;38(5):261-3. doi: 10.1055/s-2008-1062704.

PMID:
18330843
[PubMed - indexed for MEDLINE]
15.

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

Carlsson G, Elinder G, Malmgren H, Trebinska A, Grzybowska E, Dahl N, Nordenskjöld M, Fadeel B.

Pediatr Blood Cancer. 2009 Dec;53(6):1143-6. doi: 10.1002/pbc.22131.

PMID:
19499579
[PubMed - indexed for MEDLINE]
16.

Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.

Mamishi S, Esfahani SA, Parvaneh N, Diestelhorst J, Rezaei N.

J Investig Allergol Clin Immunol. 2009;19(6):500-3.

PMID:
20128427
[PubMed - indexed for MEDLINE]
Free Article
17.

Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?

Carlsson G, Kriström B, Nordenskjöld M, Henter JI, Fadeel B.

Acta Paediatr. 2013 Jan;102(1):78-82. doi: 10.1111/apa.12050.

PMID:
23050867
[PubMed - indexed for MEDLINE]
18.

A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.

Xue SL, Li JL, Zou JY, Su J, Chen SN, Wu DP.

Haematologica. 2012 Feb;97(2):318-20. doi: 10.3324/haematol.2011.055038. Epub 2011 Nov 18. No abstract available.

PMID:
22102707
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Digenic mutations in severe congenital neutropenia.

Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.

Haematologica. 2010 Jul;95(7):1207-10. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.

PMID:
20220065
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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