Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 63

1.

Autosomal Dominant Hyper IgE Syndrome.

Hsu AP, Davis J, Puck JM, Holland SM, Freeman AF.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Feb 23 [updated 2012 Jun 7].

2.

CLCN7-Related Osteopetrosis.

Sobacchi C, Villa A, Schulz A, Kornak U.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Feb 12 [updated 2016 Jun 9].

3.

Hyper IgE syndrome: review and future directions.

Freeman AF, Holland SM.

Expert Rev Clin Immunol. 2005 Nov;1(4):645-51. doi: 10.1586/1744666X.1.4.645.

PMID:
20477605
4.

Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes.

Freeman AF, Holland SM.

Pediatr Res. 2009 May;65(5 Pt 2):32R-37R. doi: 10.1203/PDR.0b013e31819dc8c5. Review.

5.

Sickle Cell Disease.

Bender MA, Douthitt Seibel G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Sep 15 [updated 2014 Oct 23].

6.

Pathogenesis of hyper IgE syndrome.

Heimall J, Freeman A, Holland SM.

Clin Rev Allergy Immunol. 2010 Feb;38(1):32-8. doi: 10.1007/s12016-009-8134-1. Review.

PMID:
19452285
7.

Cleidocranial Dysplasia.

Mendoza-Londono R, Lee B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Jan 3 [updated 2013 Aug 29].

8.

Bone density and fractures in autosomal dominant hyper IgE syndrome.

Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF.

J Clin Immunol. 2014 Feb;34(2):260-4. doi: 10.1007/s10875-013-9982-2. Epub 2014 Jan 9.

9.

Familial Hyperinsulinism.

Glaser B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Aug 19 [updated 2013 Jan 24].

10.

Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.

Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, Hong L.

J Clin Immunol. 2017 Feb;37(2):166-179. doi: 10.1007/s10875-017-0369-7. Epub 2017 Feb 14.

PMID:
28197791
11.

X-Linked Severe Combined Immunodeficiency.

Allenspach E, Rawlings DJ, Scharenberg AM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Aug 26 [updated 2016 Apr 14].

12.

Alport Syndrome and Thin Basement Membrane Nephropathy.

Kashtan CE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Aug 28 [updated 2015 Nov 25].

13.

CDC73-Related Disorders.

Jackson MA, Rich TA, Hu MI, Perrier ND, Waguespack SG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Dec 31 [updated 2015 Jan 15].

14.

Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders.

Mäkitie O, Kostjukovits S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Mar 15 [updated 2015 Aug 13].

15.

Multiple Endocrine Neoplasia Type 1.

Giusti F, Marini F, Brandi ML.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Aug 31 [updated 2015 Feb 12].

16.

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, Thumerelle C, Oksenhendler E, Boutboul D, Thomas C, Hoarau C, Lebranchu Y, Stephan JL, Cazorla C, Aladjidi N, Micheau M, Tron F, Baruchel A, Barlogis V, Palenzuela G, Mathey C, Dominique S, Body G, Munzer M, Fouyssac F, Jaussaud R, Bader-Meunier B, Mahlaoui N, Blanche S, Debré M, Le Bourgeois M, Gandemer V, Lambert N, Grandin V, Ndaga S, Jacques C, Harre C, Forveille M, Alyanakian MA, Durandy A, Bodemer C, Suarez F, Hermine O, Lortholary O, Casanova JL, Fischer A, Picard C.

Medicine (Baltimore). 2012 Jul;91(4):e1-19. doi: 10.1097/MD.0b013e31825f95b9.

17.

Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Feb 23 [updated 2016 Jul 14].

18.

Hyper-IgE syndromes.

Grimbacher B, Holland SM, Puck JM.

Immunol Rev. 2005 Feb;203:244-50. Review.

PMID:
15661034
19.

Glucose Transporter Type 1 Deficiency Syndrome.

Wang D, Pascual JM, De Vivo D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Jul 30 [updated 2015 Jan 22].

20.

[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review].

Heropolitańska-Pliszka E, Pietrucha B, Mikołuć B, Bernatowska E.

Med Wieku Rozwoj. 2009 Jan-Mar;13(1):19-25. Review. Polish.

PMID:
19648655

Supplemental Content

Support Center