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Items: 13

1.

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG.

J Neurol Sci. 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6.

PMID:
16952376
2.

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.

Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H.

Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. Epub 2006 Jun 16.

3.

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.

Am J Med Genet A. 2005 Feb 15;133A(1):90-2. Review.

PMID:
15637710
4.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

5.

Crisponi syndrome: report of a further patient.

Accorsi P, Giordano L, Faravelli F.

Am J Med Genet A. 2003 Dec 1;123A(2):183-5.

PMID:
14598344
6.

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H.

Am J Hum Genet. 2003 Feb;72(2):375-83. Epub 2002 Dec 31.

7.

The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine.

Plun-Favreau H, Elson G, Chabbert M, Froger J, deLapeyrière O, Lelièvre E, Guillet C, Hermann J, Gauchat JF, Gascan H, Chevalier S.

EMBO J. 2001 Apr 2;20(7):1692-703.

8.

CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex.

Elson GC, Lelièvre E, Guillet C, Chevalier S, Plun-Favreau H, Froger J, Suard I, de Coignac AB, Delneste Y, Bonnefoy JY, Gauchat JF, Gascan H.

Nat Neurosci. 2000 Sep;3(9):867-72.

PMID:
10966616
9.

Suckling defect in mice lacking the soluble haemopoietin receptor NR6.

Alexander WS, Rakar S, Robb L, Farley A, Willson TA, Zhang JG, Hartley L, Kikuchi Y, Kojima T, Nomura H, Hasegawa M, Maeda M, Fabri L, Jachno K, Nash A, Metcalf D, Nicola NA, Hilton DJ.

Curr Biol. 1999 Jun 3;9(11):605-8.

10.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.

Am J Med Genet. 1998 Jun 30;78(2):146-9.

PMID:
9674905
12.

A null mutation in the human CNTF gene is not causally related to neurological diseases.

Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T.

Nat Genet. 1994 May;7(1):79-84. Erratum in: Nat Genet 1994 Jun;7(2):215.

PMID:
8075647
13.

Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth.

DeChiara TM, Vejsada R, Poueymirou WT, Acheson A, Suri C, Conover JC, Friedman B, McClain J, Pan L, Stahl N, Ip NY, Yancopoulos GD.

Cell. 1995 Oct 20;83(2):313-22.

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