219 related articles for article (PubMed ID: 30076746)
1. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
Yuan H; Wang Q; Liu Y; Yang W; He Y; Gusella JF; Song J; Shen Y
Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):589-595. PubMed ID: 30076746
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Vaags AK; Lionel AC; Sato D; Goodenberger M; Stein QP; Curran S; Ogilvie C; Ahn JW; Drmic I; Senman L; Chrysler C; Thompson A; Russell C; Prasad A; Walker S; Pinto D; Marshall CR; Stavropoulos DJ; Zwaigenbaum L; Fernandez BA; Fombonne E; Bolton PF; Collier DA; Hodge JC; Roberts W; Szatmari P; Scherer SW
Am J Hum Genet; 2012 Jan; 90(1):133-41. PubMed ID: 22209245
[TBL] [Abstract][Full Text] [Related]
4. Case Report-An Inherited Loss-of-Function
Feichtinger RG; Preisel M; Brugger K; Wortmann SB; Mayr JA
Genes (Basel); 2023 Jun; 14(6):. PubMed ID: 37372397
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C; Viggiano M; Rochat MJ; Maresca A; Caporali L; Fiorini C; Palombo F; Magini P; Duardo RC; Ceroni F; Scaduto MC; Posar A; Seri M; Carelli V; Visconti P; Bacchelli E; Maestrini E
J Cell Mol Med; 2021 Mar; 25(5):2459-2470. PubMed ID: 33476483
[TBL] [Abstract][Full Text] [Related]
7. Neurexin gene family variants as risk factors for autism spectrum disorder.
Wang J; Gong J; Li L; Chen Y; Liu L; Gu H; Luo X; Hou F; Zhang J; Song R
Autism Res; 2018 Jan; 11(1):37-43. PubMed ID: 29045040
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
McKenna B; Koomar T; Vervier K; Kremsreiter J; Michaelson JJ
Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30559312
[TBL] [Abstract][Full Text] [Related]
10. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Ching MS; Shen Y; Tan WH; Jeste SS; Morrow EM; Chen X; Mukaddes NM; Yoo SY; Hanson E; Hundley R; Austin C; Becker RE; Berry GT; Driscoll K; Engle EC; Friedman S; Gusella JF; Hisama FM; Irons MB; Lafiosca T; LeClair E; Miller DT; Neessen M; Picker JD; Rappaport L; Rooney CM; Sarco DP; Stoler JM; Walsh CA; Wolff RR; Zhang T; Nasir RH; Wu BL;
Am J Med Genet B Neuropsychiatr Genet; 2010 Jun; 153B(4):937-47. PubMed ID: 20468056
[TBL] [Abstract][Full Text] [Related]
11. Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
Imitola J; Walleigh D; Anderson CE; Jethva R; Carvalho KS; Legido A; Khurana DS
Semin Pediatr Neurol; 2014 Jun; 21(2):167-71. PubMed ID: 25149956
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Characterization of speech and language phenotype in children with NRXN1 deletions.
Brignell A; St John M; Boys A; Bruce A; Dinale C; Pigdon L; Hildebrand MS; Amor DJ; Morgan AT
Am J Med Genet B Neuropsychiatr Genet; 2018 Dec; 177(8):700-708. PubMed ID: 30358070
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Zhang J; Gambin T; Yuan B; Szafranski P; Rosenfeld JA; Balwi MA; Alswaid A; Al-Gazali L; Shamsi AMA; Komara M; Ali BR; Roeder E; McAuley L; Roy DS; Manchester DK; Magoulas P; King LE; Hannig V; Bonneau D; Denommé-Pichon AS; Charif M; Besnard T; Bézieau S; Cogné B; Andrieux J; Zhu W; He W; Vetrini F; Ward PA; Cheung SW; Bi W; Eng CM; Lupski JR; Yang Y; Patel A; Lalani SR; Xia F; Stankiewicz P
Hum Genet; 2017 Apr; 136(4):377-386. PubMed ID: 28251352
[TBL] [Abstract][Full Text] [Related]
17. A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.
Yuan H; Li X; Wang Q; Yang W; Song J; Hu X; Shen Y
Eur J Med Genet; 2018 Oct; 61(10):607-611. PubMed ID: 29654904
[TBL] [Abstract][Full Text] [Related]
18. Identification of a Novel
Doddato G; Fabbiani A; Scandurra V; Canitano R; Mencarelli MA; Renieri A; Ariani F
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456494
[TBL] [Abstract][Full Text] [Related]
19. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Lionel AC; Vaags AK; Sato D; Gazzellone MJ; Mitchell EB; Chen HY; Costain G; Walker S; Egger G; Thiruvahindrapuram B; Merico D; Prasad A; Anagnostou E; Fombonne E; Zwaigenbaum L; Roberts W; Szatmari P; Fernandez BA; Georgieva L; Brzustowicz LM; Roetzer K; Kaschnitz W; Vincent JB; Windpassinger C; Marshall CR; Trifiletti RR; Kirmani S; Kirov G; Petek E; Hodge JC; Bassett AS; Scherer SW
Hum Mol Genet; 2013 May; 22(10):2055-66. PubMed ID: 23393157
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
