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Year Number of Results
1977 1
1981 2
1989 1
1994 1
2005 1
2008 1
2010 2
2012 1
2013 1
2014 1
2016 1
2017 1
2018 1
2022 1
2023 1
2024 2

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16 results

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Page 1
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. ...RESULTS: All nine patients carried recessively inheri …
BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedo …
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. ...Ocular motility defects (45%), abdominal malformations (44% …
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome deri …
Clinical characteristics of a sample of patients with cat eye syndrome.
Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Rosa RF, et al. Rev Assoc Med Bras (1992). 2010 Jul-Aug;56(4):462-5. doi: 10.1590/s0104-42302010000400021. Rev Assoc Med Bras (1992). 2010. PMID: 20835645 Free article. English, Portuguese.
OBJECTIVE: Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at …
OBJECTIVE: Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of …
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
Serra G, Giambrone C, Antona V, Cardella F, Carta M, Cimador M, Corsello G, Giuffrè M, Insinga V, Maggio MC, Pensabene M, Schierz IAM, Piro E. Serra G, et al. Ital J Pediatr. 2022 Sep 8;48(1):170. doi: 10.1186/s13052-022-01365-9. Ital J Pediatr. 2022. PMID: 36076277 Free PMC article.
BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. ...Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial s …
BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live n …
Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause.
Santo GC, Baldeiras I, Guerreiro R, Ribeiro JA, Cunha R, Youngstein T, Nanthapisal S, Leitão J, Fernandes C, Caramelo F, Almeida MDR, Brás J, Santana I; Centro Hospitalar e Universitário de Coimbra. Santo GC, et al. Cerebrovasc Dis. 2018;46(5-6):257-264. doi: 10.1159/000495794. Epub 2019 Jan 15. Cerebrovasc Dis. 2018. PMID: 30645994
In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), characterized by recurrent fevers and vascular pathologic features that included LR and stroke. All the patients carried recessively i …
In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DA …
CD138 as a Specific CSF Biomarker of Multiple Sclerosis.
Hinsinger G, Du Trieu De Terdonck L, Urbach S, Salvetat N, Rival M, Galoppin M, Ripoll C, Cezar R, Laurent-Chabalier S, Demattei C, Agherbi H, Castelnovo G, Lehmann S, Rigau V, Marin P, Thouvenot E. Hinsinger G, et al. Neurol Neuroimmunol Neuroinflamm. 2024 May;11(3):e200230. doi: 10.1212/NXI.0000000000200230. Epub 2024 Apr 25. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38669615 Free PMC article.
RESULTS: This study unveiled a promising biomarker signature for MS, including previously established candidates, such as chitinase 3-like protein 1, chitinase 3-like protein 2, chitotriosidase, immunoglobulin kappa chain region C, neutrophil gelatinase-associated lipocalin, and …
RESULTS: This study unveiled a promising biomarker signature for MS, including previously established candidates, such as chitinase 3-like p …
The aetiology of the cat eye syndrome reconsidered.
Guanti G. Guanti G. J Med Genet. 1981 Apr;18(2):108-18. doi: 10.1136/jmg.18.2.108. J Med Genet. 1981. PMID: 7241528 Free PMC article.
The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary trac …
The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised …
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. Schinzel A, et al. Hum Genet. 1981;57(2):148-58. doi: 10.1007/BF00282012. Hum Genet. 1981. PMID: 6785205
Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schmid and Fraccaro. ...Many mildly affected patients probably remain undetected. It is proposed that the term Cat …
Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original …
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and t …
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome …
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.
Sixteen unique CNVs overlapping these variants were found in an independent CVM plus ECA cohort (n=511), which were not observed in 2011 controls. The study identified 12/16 (75%) novel loci including non-recurrent de novo 16q24.3 loss (4/714) and de novo 2q31.3q32.1 loss …
Sixteen unique CNVs overlapping these variants were found in an independent CVM plus ECA cohort (n=511), which were not observed in 2 …
16 results