362 related articles for article (PubMed ID: 21827697)
1. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A; Albrecht B; Bader I; Bijlsma EK; Ekici AB; Engels H; Hackmann K; Horn D; Hoyer J; Klapecki J; Kohlhase J; Maystadt I; Nagl S; Prott E; Tinschert S; Ullmann R; Wohlleber E; Woods G; Reis A; Rauch A; Zweier C
BMC Med Genet; 2011 Aug; 12():106. PubMed ID: 21827697
[TBL] [Abstract][Full Text] [Related]
2. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C; de Jong EK; Zweier M; Orrico A; Ousager LB; Collins AL; Bijlsma EK; Oortveld MA; Ekici AB; Reis A; Schenck A; Rauch A
Am J Hum Genet; 2009 Nov; 85(5):655-66. PubMed ID: 19896112
[TBL] [Abstract][Full Text] [Related]
3. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Schaaf CP; Boone PM; Sampath S; Williams C; Bader PI; Mueller JM; Shchelochkov OA; Brown CW; Crawford HP; Phalen JA; Tartaglia NR; Evans P; Campbell WM; Tsai AC; Parsley L; Grayson SW; Scheuerle A; Luzzi CD; Thomas SK; Eng PA; Kang SH; Patel A; Stankiewicz P; Cheung SW
Eur J Hum Genet; 2012 Dec; 20(12):1240-7. PubMed ID: 22617343
[TBL] [Abstract][Full Text] [Related]
5. Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.
Aksu Uzunhan T; Ayaz A
Clin Neurol Neurosurg; 2022 Mar; 214():107141. PubMed ID: 35101781
[TBL] [Abstract][Full Text] [Related]
6. Investigation of NRXN1 deletions: clinical and molecular characterization.
Dabell MP; Rosenfeld JA; Bader P; Escobar LF; El-Khechen D; Vallee SE; Dinulos MB; Curry C; Fisher J; Tervo R; Hannibal MC; Siefkas K; Wyatt PR; Hughes L; Smith R; Ellingwood S; Lacassie Y; Stroud T; Farrell SA; Sanchez-Lara PA; Randolph LM; Niyazov D; Stevens CA; Schoonveld C; Skidmore D; MacKay S; Miles JH; Moodley M; Huillet A; Neill NJ; Ellison JW; Ballif BC; Shaffer LG
Am J Med Genet A; 2013 Apr; 161A(4):717-31. PubMed ID: 23495017
[TBL] [Abstract][Full Text] [Related]
7. NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M; Forman EB; Fitzgerald JE; McInerney V; Krawczyk J; Shen S; Betts DR; Ardle LM; Gorman KM; King MD; Green A; Gallagher L; Lynch SA
Eur J Med Genet; 2019 Mar; 62(3):204-209. PubMed ID: 30031152
[TBL] [Abstract][Full Text] [Related]
8. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Forrest M; Chapman RM; Doyle AM; Tinsley CL; Waite A; Blake DJ
Hum Mutat; 2012 Dec; 33(12):1676-86. PubMed ID: 22777675
[TBL] [Abstract][Full Text] [Related]
9. Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.
Yangngam S; Plong-On O; Sripo T; Roongpraiwan R; Hansakunachai T; Wirojanan J; Sombuntham T; Ruangdaraganon N; Limprasert P
Genet Test Mol Biomarkers; 2014 Jul; 18(7):510-5. PubMed ID: 24832020
[TBL] [Abstract][Full Text] [Related]
10. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.
Agha Z; Iqbal Z; Azam M; Siddique M; Willemsen MH; Kleefstra T; Zweier C; de Leeuw N; Qamar R; van Bokhoven H
Gene; 2014 Mar; 538(1):30-5. PubMed ID: 24440292
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Castronovo P; Baccarin M; Ricciardello A; Picinelli C; Tomaiuolo P; Cucinotta F; Frittoli M; Lintas C; Sacco R; Persico AM
Clin Genet; 2020 Jan; 97(1):125-137. PubMed ID: 30873608
[TBL] [Abstract][Full Text] [Related]
12. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F; Bruno DL; Eriksson M; van Ravenswaaij-Arts C; Stark Z; Dijkhuizen T; Gerkes E; Gimelli S; Ganesamoorthy D; Thuresson AC; Labalme A; Till M; Bilan F; Pasquier L; Kitzis A; Dubourgm C; Rossi M; Bottani A; Gagnebin M; Sanlaville D; Gilbert-Dussardier B; Guipponi M; van Haeringen A; Kriek M; Ruivenkamp C; Antonarakis SE; Anderlid BM; Slater HR; Schoumans J
Am J Med Genet B Neuropsychiatr Genet; 2013 Jun; 162B(4):388-403. PubMed ID: 23533028
[TBL] [Abstract][Full Text] [Related]
13. Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.
Alfieri P; Scibelli F; Sinibaldi L; Valeri G; Caciolo C; Novello RL; Novelli A; Digilio MC; Tartaglia M; Vicari S
Genes Brain Behav; 2020 Sep; 19(7):e12687. PubMed ID: 32658356
[TBL] [Abstract][Full Text] [Related]
14. A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.
Agha Z; Iqbal Z; Kleefstra T; Zweier C; Pfundt R; Qamar R; VAN Bokhoven H; Willemsen MH
Genet Res (Camb); 2015 Oct; 97():e19. PubMed ID: 26438105
[TBL] [Abstract][Full Text] [Related]
15. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Gauthier J; Siddiqui TJ; Huashan P; Yokomaku D; Hamdan FF; Champagne N; Lapointe M; Spiegelman D; Noreau A; Lafrenière RG; Fathalli F; Joober R; Krebs MO; DeLisi LE; Mottron L; Fombonne E; Michaud JL; Drapeau P; Carbonetto S; Craig AM; Rouleau GA
Hum Genet; 2011 Oct; 130(4):563-73. PubMed ID: 21424692
[TBL] [Abstract][Full Text] [Related]
16. Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.
Harrison V; Connell L; Hayesmoore J; McParland J; Pike MG; Blair E
Am J Med Genet A; 2011 Nov; 155A(11):2826-31. PubMed ID: 21964664
[TBL] [Abstract][Full Text] [Related]
17. Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
Rodenas-Cuadrado P; Pietrafusa N; Francavilla T; La Neve A; Striano P; Vernes SC
BMC Med Genet; 2016 Feb; 17():8. PubMed ID: 26843181
[TBL] [Abstract][Full Text] [Related]
18. Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.
Zweier C
Mol Syndromol; 2012 Apr; 2(3-5):181-185. PubMed ID: 22670139
[TBL] [Abstract][Full Text] [Related]
19. Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers.
Ul Mudassir B; Agha Z
Mol Biol Rep; 2024 Feb; 51(1):276. PubMed ID: 38315301
[TBL] [Abstract][Full Text] [Related]
20. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
Duong L; Klitten LL; Møller RS; Ingason A; Jakobsen KD; Skjødt C; Didriksen M; Hjalgrim H; Werge T; Tommerup N
Am J Med Genet B Neuropsychiatr Genet; 2012 Apr; 159B(3):354-8. PubMed ID: 22337556
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]