276 related articles for article (PubMed ID: 30214071)
1. 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]
2. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H; Alazami AM; Manning M; Hashem A; Caluseiu O; Tabarki B; Esplin E; Schelley S; Innes AM; Parboosingh JS; Lamont R; ; Majewski J; Bernier FP; Alkuraya FS
Am J Hum Genet; 2015 Dec; 97(6):862-8. PubMed ID: 26608784
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E; Posey JE; Bostwick B; Liu P; Gezdirici A; Yesil G; Coban Akdemir Z; Bayram Y; Harms FL; Meinecke P; Alawi M; Bacino CA; Sutton VR; Kortüm F; Lupski JR
Am J Med Genet A; 2019 Oct; 179(10):2056-2066. PubMed ID: 31407851
[TBL] [Abstract][Full Text] [Related]
5. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Nair P; Hamzeh AR; Mohamed M; Saif F; Tawfiq N; El Halik M; Al-Ali MT; Bastaki F
Am J Med Genet A; 2016 Aug; 170(8):2127-32. PubMed ID: 27232581
[TBL] [Abstract][Full Text] [Related]
6. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
Hagiwara H; Matsumoto H; Uematsu K; Zaha K; Sekinaka Y; Miyake N; Matsumoto N; Nonoyama S
Brain Dev; 2021 Feb; 43(2):337-342. PubMed ID: 33059947
[TBL] [Abstract][Full Text] [Related]
7. Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
McMillan HJ; Davila J; Osmond M; Chakraborty P; ; Boycott KM; Dyment DA; Kernohan KD
Am J Med Genet A; 2021 Nov; 185(11):3502-3506. PubMed ID: 34405953
[TBL] [Abstract][Full Text] [Related]
8. Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R; Faqeih E; Ansari S; Abdel-Salam G; Al-Hassnan ZN; Al-Shidi T; Alomar R; Sogaty S; Alkuraya FS
Genome Res; 2014 Feb; 24(2):291-9. PubMed ID: 24389050
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Trimouille A; Lasseaux E; Barat P; Deiller C; Drunat S; Rooryck C; Arveiler B; Lacombe D
Clin Genet; 2018 Feb; 93(2):374-377. PubMed ID: 28617965
[TBL] [Abstract][Full Text] [Related]
10. Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A; Torella A; Santoro C; Giugliano T; Del Vecchio Blanco F; Mutarelli M; Cirillo M; Cirillo G; Piluso G; Capristo C; Festa A; Marzuillo P; Miraglia Del Giudice E; Perrone L; Nigro V
Clin Genet; 2016 Nov; 90(5):445-450. PubMed ID: 26940245
[TBL] [Abstract][Full Text] [Related]
11. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
Nguyen TH; Nguyen NL; Vu CD; Ngoc CTB; Nguyen NK; Nguyen HH
Genes Genomics; 2021 Feb; 43(2):115-121. PubMed ID: 33460028
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Abdel-Salam GM; Miyake N; Eid MM; Abdel-Hamid MS; Hassan NA; Eid OM; Effat LK; El-Badry TH; El-Kamah GY; El-Darouti M; Matsumoto N
Am J Med Genet A; 2011 Nov; 155A(11):2885-96. PubMed ID: 21990275
[TBL] [Abstract][Full Text] [Related]
14. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
Abdel-Salam GM; Abdel-Hamid MS; Issa M; Magdy A; El-Kotoury A; Amr K
Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640
[TBL] [Abstract][Full Text] [Related]
15. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
Shaheen R; Abdel-Salam GM; Guy MP; Alomar R; Abdel-Hamid MS; Afifi HH; Ismail SI; Emam BA; Phizicky EM; Alkuraya FS
Genome Biol; 2015 Sep; 16():210. PubMed ID: 26416026
[TBL] [Abstract][Full Text] [Related]
16. Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Schulz S; Mensah MA; de Vries H; Fröber R; Romeike B; Schneider U; Borte S; Schindler D; Kentouche K
Eur J Hum Genet; 2018 Sep; 26(9):1282-1287. PubMed ID: 29760432
[TBL] [Abstract][Full Text] [Related]
17. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH; Sayed ISM; Afifi HH; Abdel-Ghafar SF; Abouzaid MR; Ismail SI; Aglan MS; Issa MY; El-Bassyouni HT; El-Kamah G; Effat LK; Eid M; Zaki MS; Temtamy SA; Abdel-Hamid MS
Am J Med Genet A; 2020 Jun; 182(6):1407-1420. PubMed ID: 32267100
[TBL] [Abstract][Full Text] [Related]
18. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
Pachajoa H; Ruiz-Botero F; Isaza C
J Med Case Rep; 2014 Jun; 8():191. PubMed ID: 24928221
[TBL] [Abstract][Full Text] [Related]
19. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Farach LS; Little ME; Duker AL; Logan CV; Jackson A; Hecht JT; Bober M
Am J Med Genet A; 2018 Feb; 176(2):465-469. PubMed ID: 29265708
[TBL] [Abstract][Full Text] [Related]
20. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit G; Wieczorek D; Bögershausen N; Beleggia F; Möller-Hartmann C; Altmüller J; Thiele H; Nürnberg P; Wollnik B
Am J Med Genet A; 2016 Mar; 170(3):728-33. PubMed ID: 26640080
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
