Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 162

1.

Congenital Central Hypoventilation Syndrome.

Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jan 28 [updated 2014 Jan 30].

2.

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Weese-Mayer DE, Berry-Kravis EM, Marazita ML.

Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.

PMID:
16054879
3.

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE.

Pediatr Res. 2017 Jan;81(1-2):192-201. doi: 10.1038/pr.2016.196. Epub 2016 Sep 27. Review.

PMID:
27673423
4.

Marfan Syndrome.

Dietz H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Apr 18 [updated 2017 Oct 12].

5.

Genetic Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Nov 16 [updated 2016 Jun 9].

6.

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.

Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.

PMID:
18579454
7.

Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

Rand CM, Carroll MS, Weese-Mayer DE.

Clin Chest Med. 2014 Sep;35(3):535-45. doi: 10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26. Review.

PMID:
25156769
8.

Glucose Transporter Type 1 Deficiency Syndrome.

Wang D, Pascual JM, De Vivo D.

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

9.

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.

Grigg-Damberger M, Wells A.

Semin Respir Crit Care Med. 2009 Jun;30(3):262-74. doi: 10.1055/s-0029-1222440. Epub 2009 May 18. Review.

PMID:
19452387
10.

Familial Hyperinsulinism.

Glaser B.

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

11.

Central Core Disease.

Malicdan MCV, Nishino I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 May 16 [updated 2014 Dec 4].

12.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jan 22 [updated 2012 Aug 23].

13.

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.

Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Review.

PMID:
19422034
14.

Hypokalemic Periodic Paralysis.

Vicart S, Sternberg D, Arzel-Hézode M, Franques J, Bendahhou S, Lory P, Hainque B, Fournier E, Nicole S, Fontaine B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Apr 30 [updated 2014 Jul 31].

15.

Sickle Cell Disease.

Bender MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Sep 15 [updated 2017 Aug 17].

16.

ALK-Related Neuroblastic Tumor Susceptibility.

Greengard EG, Park JR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Jan 5 [updated 2015 Apr 9].

17.

Autoimmune Lymphoproliferative Syndrome.

Bleesing JJH, Nagaraj CB, Zhang K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Sep 14 [updated 2017 Aug 24].

18.

Congenital central hypoventilation syndrome: not just another rare disorder.

Chen ML, Keens TG.

Paediatr Respir Rev. 2004 Sep;5(3):182-9. Review.

PMID:
15276129
19.

Familial Hypercholesterolemia.

Youngblom E, Pariani M, Knowles JW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 Jan 2 [updated 2016 Dec 8].

20.

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.

Marion TL, Bradshaw WT.

Neonatal Netw. 2011 Nov-Dec;30(6):397-401. doi: 10.1891/0730-0832.30.6.397. Review.

PMID:
22052119

Supplemental Content

Support Center