SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Van Allen Margot I.)
 

Sökning: WFRF:(Van Allen Margot I.) > (2019) > Exome sequencing in...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005424naa a2200613 4500
001oai:DiVA.org:uu-382813
003SwePub
008190507s2019 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3828132 URI
0247 a https://doi.org/10.1111/cge.135322 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Angius, Andreau CNR, Ist Ric Genet & Biomed, Cagliari, Italy4 aut
2451 0a Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
264 c 2019-03-28
264 1b WILEY,c 2019
338 a print2 rdacarrier
520 a Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Crisponi
653 a cold-induced sweating syndrome
653 a CRLF1
653 a MAGEL2
653 a NALCN
653 a SCN2A
653 a whole exome sequencing
7001 a Uva, Paolou Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy4 aut
7001 a Oppo, Manuelau CNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy4 aut
7001 a Buers, Insau Munster Univ, Cells Mot Cluster Excellence, Munster, Germany;Munster Univ, Childrens Hosp, Dept Gen Pediat, Munster, Germany4 aut
7001 a Persico, Ivanau CNR, Ist Ric Genet & Biomed, Cagliari, Italy4 aut
7001 a Onano, Stefanou CNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy4 aut
7001 a Cuccuru, Gianmaurou Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy4 aut
7001 a Van Allen, Margot I.u Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada;BC Childrens & Womens Hlth Ctr, Prov Hlth Serv Author, Vancouver, BC, Canada;Victoria Isl Hlth Author, Dept Med Genet, Victoria, BC, Canada4 aut
7001 a Hulait, Gurdipu BC Childrens & Womens Hlth Ctr, Prov Hlth Serv Author, Vancouver, BC, Canada4 aut
7001 a Aubertin, Gudrunu Victoria Isl Hlth Author, Dept Med Genet, Victoria, BC, Canada4 aut
7001 a Muntoni, Francescou UCL Great Ormond St Hosp, Dubowitz Neuromuscular Ctr, London, England;Univ Hosp Wales, Inst Med Genet, Cardiff, S Glam, Wales4 aut
7001 a Fry, Andrew E.4 aut
7001 a Annerén, Göran,d 1945-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)goraanne
7001 a Stattin, Evalenau Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)evast375
7001 a Palomares-Bralo, Maria4 aut
7001 a Santos-Simarro, Fernando4 aut
7001 a Cucca, Francescou CNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy4 aut
7001 a Crisponi, Giangiorgiou Clin St Anna, Cagliari, Italy4 aut
7001 a Rutsch, Franku Munster Univ, Cells Mot Cluster Excellence, Munster, Germany;Munster Univ, Childrens Hosp, Dept Gen Pediat, Munster, Germany4 aut
7001 a Crisponi, Laurau CNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy4 aut
7102 a CNR, Ist Ric Genet & Biomed, Cagliari, Italyb Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy4 org
7730 t Clinical Geneticsd : WILEYg 95:5, s. 607-614q 95:5<607-614x 0009-9163x 1399-0004
8564 u https://discovery.ucl.ac.uk/10071015/1/Muntoni_Exome%20sequencing%20in%20Crisponi%20CISS-like%20individuals%20reveals%20unpredicted%20alternative%20diagnoses_AAM.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-382813
8564 8u https://doi.org/10.1111/cge.13532

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy