207 related articles for article (PubMed ID: 34946966)
1. Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M; Gambin T; Bukowska-Olech E; Antczak-Marach D; Badura-Stronka M; Buda P; Budzynska E; Castaneda J; Chilarska T; Czyzyk E; Eckersdorf-Mastalerz A; Fijak-Moskal J; Gieruszczak-Bialek D; Glodek-Brzozowska E; Goszczanska-Ciuchta A; Grzeszykowska-Podymniak M; Gurda B; Jakubiuk-Tomaszuk A; Jamroz E; Janeczko M; Jedlińska-Pijanowska D; Jurek M; Karolewska D; Kazmierczak A; Kleist T; Kochanowska I; Krajewska-Walasek M; Kufel K; Kutkowska-Kaźmierczak A; Lipiec A; Maksym-Gasiorek D; Materna-Kiryluk A; Mazurkiewicz H; Milewski M; Pavina-Guglas T; Pietrzyk A; Posmyk R; Pyrkosz A; Rudzka-Dybala M; Slezak R; Wisniewska M; Zalewska-Miszkurka Z; Szczepanik E; Obersztyn E; Bekiesinska-Figatowska M; Gawlinski P; Wiszniewski W
Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946966
[TBL] [Abstract][Full Text] [Related]
2. Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R; Maddirevula S; Ewida N; Alsahli S; Abdel-Salam GMH; Zaki MS; Tala SA; Alhashem A; Softah A; Al-Owain M; Alazami AM; Abadel B; Patel N; Al-Sheddi T; Alomar R; Alobeid E; Ibrahim N; Hashem M; Abdulwahab F; Hamad M; Tabarki B; Alwadei AH; Alhazzani F; Bashiri FA; Kentab A; Şahintürk S; Sherr E; Fregeau B; Sogati S; Alshahwan SAM; Alkhalifi S; Alhumaidi Z; Temtamy S; Aglan M; Otaify G; Girisha KM; Tulbah M; Seidahmed MZ; Salih MA; Abouelhoda M; Momin AA; Saffar MA; Partlow JN; Arold ST; Faqeih E; Walsh C; Alkuraya FS
Genet Med; 2019 Mar; 21(3):545-552. PubMed ID: 30214071
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C; Zhou W; Zhang L; Fu L; Shi W; Qing Y; Lu F; Tang J; Gao X; Zhang A; Jia Z; Zhang Y; Zhao X; Zheng B
BMC Genomics; 2023 Jul; 24(1):422. PubMed ID: 37501076
[TBL] [Abstract][Full Text] [Related]
4. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P; Joset P; Steindl K; Oneda B; Gogoll L; Azzarello-Burri S; Sheth F; Datar C; Verma IC; Puri RD; Zollino M; Bachmann-Gagescu R; Niedrist D; Papik M; Figueiro-Silva J; Masood R; Zweier M; Kraemer D; Lincoln S; Rodan L; ; Passemard S; Drunat S; Verloes A; Horn AHC; Sticht H; Steinfeld R; Plecko B; Latal B; Jenni O; Asadollahi R; Rauch A
Genet Med; 2019 Sep; 21(9):2043-2058. PubMed ID: 30842647
[TBL] [Abstract][Full Text] [Related]
5. Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.
Masih S; Moirangthem A; Shambhavi A; Rai A; Mandal K; Saxena D; Nilay M; Agrawal N; Srivastava S; Sait H; Phadke SR
Eur J Med Genet; 2022 Jun; 65(6):104520. PubMed ID: 35568357
[TBL] [Abstract][Full Text] [Related]
6. TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
Cavallin M; Maillard C; Hully M; Philbert M; Boddaert N; Reilly ML; Nitschké P; Bery A; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):729-732. PubMed ID: 29758293
[TBL] [Abstract][Full Text] [Related]
7. Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
[TBL] [Abstract][Full Text] [Related]
8. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Ben-Salem S; Gleeson JG; Al-Shamsi AM; Islam B; Hertecant J; Ali BR; Al-Gazali L
Metab Brain Dis; 2015 Jun; 30(3):687-94. PubMed ID: 25227173
[TBL] [Abstract][Full Text] [Related]
9. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
Cherkaoui Jaouad I; Zrhidri A; Jdioui W; Lyahyai J; Raymond L; Egéa G; Taoudi M; El Mouatassim S; Sefiani A
BMC Med Genet; 2018 Jul; 19(1):118. PubMed ID: 30021525
[TBL] [Abstract][Full Text] [Related]
10. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S; Baig JM; Moawia A; Ahmad I; Iqbal M; Waseem SS; Asif M; Abdullah U; Makhdoom EUH; Kaygusuz E; Zakaria M; Ramzan S; Haque SU; Mir A; Anjum I; Fiaz M; Ali Z; Tariq M; Saba N; Hussain W; Budde B; Irshad S; Noegel AA; Höning S; Baig SM; Nürnberg P; Hussain MS
Mol Genet Genomic Med; 2020 Sep; 8(9):e1408. PubMed ID: 32677750
[TBL] [Abstract][Full Text] [Related]
11. 10q23.31 microduplication encompassing
Oliveira D; Leal GF; Sertié AL; Caires LC; Goulart E; Musso CM; Oliveira JRM; Krepischi ACV; Vianna-Morgante AM; Zatz M
J Med Genet; 2019 Aug; 56(8):543-547. PubMed ID: 30301738
[TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P; Jazayeri O; van Dijk-Bos KK; Johansson LF; van Essen AJ; Verheij JB; Veenstra-Knol HE; Redeker EJ; Mannens MM; Swertz MA; Alizadeh BZ; van Ravenswaaij-Arts CM; Sinke RJ; Sikkema-Raddatz B
BMC Med Genomics; 2016 Feb; 9():7. PubMed ID: 26846091
[TBL] [Abstract][Full Text] [Related]
13. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
Hashmi JA; Al-Harbi KM; Ramzan K; Albalawi AM; Mehmood A; Samman MI; Basit S
Ann Saudi Med; 2016; 36(6):391-396. PubMed ID: 27920410
[TBL] [Abstract][Full Text] [Related]
14. A new association between CDK5RAP2 microcephaly and congenital cataracts.
Alfares A; Alhufayti I; Alsubaie L; Alowain M; Almass R; Alfadhel M; Kaya N; Eyaid W
Ann Hum Genet; 2018 May; 82(3):165-170. PubMed ID: 29271474
[TBL] [Abstract][Full Text] [Related]
15. Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
Wah YMI; Cao Y; Law CY; Choy KW; Leung TY; Kwan HWA; Poon LC
Fetal Diagn Ther; 2023; 50(2):84-91. PubMed ID: 36739862
[TBL] [Abstract][Full Text] [Related]
16. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
[TBL] [Abstract][Full Text] [Related]
17. Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.
Entezam M; Razipour M; Talebi S; Beiraghi Toosi M; Keramatipour M
Brain Dev; 2019 Feb; 41(2):182-186. PubMed ID: 30195441
[TBL] [Abstract][Full Text] [Related]
18. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Tan CA; Topper S; Ward Melver C; Stein J; Reeder A; Arndt K; Das S
Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037
[TBL] [Abstract][Full Text] [Related]
19. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
McDonell LM; Warman Chardon J; Schwartzentruber J; Foster D; Beaulieu CL; ; Majewski J; Bulman DE; Boycott KM
BMC Neurol; 2014 Jan; 14():22. PubMed ID: 24479948
[TBL] [Abstract][Full Text] [Related]
20. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B; Selvan LDN; Nguyen TT; Manoj J; Stawiski EW; Jaiswal BS; Wang W; Raja R; Ramprasad VL; Gupta R; Murugan S; Kadandale JS; Prasad TSK; Reddy K; Peterson A; Pandey A; Seshagiri S; Girimaji SC; Gowda H
OMICS; 2017 May; 21(5):295-303. PubMed ID: 28481730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]