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Items: 1 to 20 of 34

1.

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N.

J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14.

PMID:
26763878
2.

Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.

Testani E, Della Marca G, La Torraca I, Vollono C, Crisponi G, Zampino G, Valeriani M.

Muscle Nerve. 2016 Jun;54(1):100-3. doi: 10.1002/mus.24976. Epub 2016 Feb 26.

PMID:
26565815
3.

Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders.

Sims NA.

Cytokine Growth Factor Rev. 2015 Oct;26(5):517-22. doi: 10.1016/j.cytogfr.2015.07.014. Epub 2015 Jul 14. Review.

PMID:
26198769
4.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.

5.

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H.

Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24.

6.

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6.

PMID:
24488861
7.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N.

Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.

8.

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.

Hakan N, Eminoglu FT, Aydin M, Zenciroglu A, Karadag NN, Dursun A, Okumus N, Ceylaner S.

Congenit Anom (Kyoto). 2012 Dec;52(4):216-8. doi: 10.1111/j.1741-4520.2012.00360.x.

PMID:
23181498
9.

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H.

Brain Dev. 2013 Jun;35(6):596-601. doi: 10.1016/j.braindev.2012.08.011. Epub 2012 Sep 29.

PMID:
23026229
10.

Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.

Dessì A, Fanos V, Crisponi G, Frau A, Ottonello G.

J Obstet Gynaecol Res. 2012 Mar;38(3):582-5. doi: 10.1111/j.1447-0756.2011.01741.x. Epub 2012 Feb 16.

PMID:
22381110
11.

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA.

Clin Dysmorphol. 2011 Oct;20(4):187-9. doi: 10.1097/MCD.0b013e328348836c.

PMID:
21691203
12.

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F.

Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16.

13.

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.

Di Leo R, Nolano M, Boman H, Pierangeli G, Provitera V, Knappskog PM, Cortelli P, Vita G, Rodolico C.

Neurology. 2010 Oct 26;75(17):1567-9. doi: 10.1212/WNL.0b013e3181f96237. No abstract available.

PMID:
20975058
14.

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.

Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x.

PMID:
20447141
15.

Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.

Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H.

J Neurol Sci. 2010 Jun 15;293(1-2):68-75. doi: 10.1016/j.jns.2010.02.028. Epub 2010 Apr 18.

PMID:
20400119
16.

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.

Herholz J, Crisponi L, Mallick BN, Rutsch F.

Dev Med Child Neurol. 2010 May;52(5):494-7. doi: 10.1111/j.1469-8749.2010.03630.x. Epub 2010 Feb 24. No abstract available.

17.

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y.

Am J Med Genet A. 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315.

PMID:
20186812
18.

Crisponi syndrome: a new case with additional features and new mutation in CRLF1.

Okur I, Tumer L, Crisponi L, Eminoglu FT, Chiappe F, Cinaz P, Yenicesu I, Hasanoglu A.

Am J Med Genet A. 2008 Dec 15;146A(24):3237-9. doi: 10.1002/ajmg.a.32531. No abstract available.

PMID:
19012339
19.

Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus.

Thomas N, Danda S, Kumar M, Jana AK, Crisponi G, Meloni A, Crisponi L.

Am J Med Genet A. 2008 Nov 1;146A(21):2831-4. doi: 10.1002/ajmg.a.32487. No abstract available.

PMID:
18837055
20.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.

Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. Review.

PMID:
18546280

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