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Items: 18

1.

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

Shultz LD, Lyons BL, Burzenski LM, Gott B, Samuels R, Schweitzer PA, Dreger C, Herrmann H, Kalscheuer V, Olins AL, Olins DE, Sperling K, Hoffmann K.

Hum Mol Genet. 2003 Jan 1;12(1):61-9.

PMID:
12490533
2.

[Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology].

Tomonaga M.

Rinsho Byori. 2005 Jan;53(1):54-60. Review. Japanese.

PMID:
15724491
3.

Pelger-Huët anomaly: a critical review of the literature.

Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F.

Acta Haematol. 2009;121(4):202-6. doi: 10.1159/000220333. Epub 2009 May 26. Review.

PMID:
19468205
4.

Understanding and recognizing the Pelger-Huët anomaly.

Colella R, Hollensead SC.

Am J Clin Pathol. 2012 Mar;137(3):358-66. doi: 10.1309/AJCP3G8MDUXYSCID. Review.

PMID:
22338047
5.

The granulocyte nucleus and lamin B receptor: avoiding the ovoid.

Hoffmann K, Sperling K, Olins AL, Olins DE.

Chromosoma. 2007 Jun;116(3):227-35. Epub 2007 Jan 24. Review.

PMID:
17245605
6.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
7.

Components of the nuclear envelope and their role in human disease.

Worman HJ.

Novartis Found Symp. 2005;264:35-42; discussion 42-50, 227-30. Review.

PMID:
15773746
8.

Animal models for genetic neuromuscular diseases.

Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU.

J Mol Neurosci. 2008 Mar;34(3):241-8. doi: 10.1007/s12031-007-9023-9. Epub 2008 Jan 18. Review.

PMID:
18202836
9.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
10.

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.

Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC.

J Med Genet. 2003 Dec;40(12):937-41. Review. No abstract available.

11.

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.

Cuajungco MP, Samie MA.

Pflugers Arch. 2008 Nov;457(2):463-73. doi: 10.1007/s00424-008-0523-4. Epub 2008 May 27. Review.

PMID:
18504603
12.

Acquired Pelger-Huët: what does it really mean?

Dusse LM, Moreira AM, Vieira LM, Rios DR, Silva RM, Carvalho Md.

Clin Chim Acta. 2010 Nov 11;411(21-22):1587-90. doi: 10.1016/j.cca.2010.07.011. Epub 2010 Aug 5. Review.

PMID:
20691170
13.

Inherited disorders of neonatal lung diseases.

Yurdakök M.

Turk J Pediatr. 2004 Apr-Jun;46(2):105-14. Review.

PMID:
15214737
14.

Age-related phenotypes in the staggerer mouse expand the RORalpha nuclear receptor's role beyond the cerebellum.

Jarvis CI, Staels B, Brugg B, Lemaigre-Dubreuil Y, Tedgui A, Mariani J.

Mol Cell Endocrinol. 2002 Jan 15;186(1):1-5. Review.

PMID:
11850116
15.

Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.

Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R.

Prog Neurobiol. 1994 Feb;42(2):313-7. Review.

PMID:
8008830
16.

[Pelger-Huët anomaly].

Shinjo K, Ohno R.

Ryoikibetsu Shokogun Shirizu. 1998;(21 Pt 2):53-5. Review. Japanese. No abstract available.

PMID:
9833425
17.

[Pelger-Huët anomaly].

Shinjo K, Ohno R.

Ryoikibetsu Shokogun Shirizu. 2000;(32):139-41. Review. Japanese. No abstract available.

PMID:
11212667
18.

[Pseudo Pelger-Huët anomaly].

Kurokawa Y, Komiyama A.

Ryoikibetsu Shokogun Shirizu. 1998;(21 Pt 2):94-5. Review. Japanese. No abstract available.

PMID:
9833440

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