119 related articles for article (PubMed ID: 28211990)
1. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
Costain G; Shugar A; Krishnan P; Mahmutoglu S; Laughlin S; Kannu P
Am J Med Genet A; 2017 Mar; 173(3):740-743. PubMed ID: 28211990
[TBL] [Abstract][Full Text] [Related]
2. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN; Simard LR; Ly V; Del Bigio MR; Frosk P
Am J Med Genet A; 2019 Feb; 179(2):206-218. PubMed ID: 30556349
[TBL] [Abstract][Full Text] [Related]
3. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA; Mohammadi-Sarband M; Fardanesh F; Garshasbi M
BMC Med Genomics; 2022 Apr; 15(1):78. PubMed ID: 35379233
[TBL] [Abstract][Full Text] [Related]
4. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M; Yahia A; Elsayed LE; Hamed AA; Mohammed IN; Elseed MA; Hamad MHA; Babai AM; Siddig RA; Abd Allah ASI; Mohamed M; El-Amin M; Esteves T; Altmüller J; Toliat MR; Thiele H; Nürnberg P; Salih MA; Ahmed AE; Lerche H; Stevanin G
Ann Hum Genet; 2021 Sep; 85(5):186-195. PubMed ID: 34111303
[TBL] [Abstract][Full Text] [Related]
5. Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer MI; Sogaty S; Rasool M; Chaudhary AG; Abutalib YA; Walker S; Marshall CR; Merico D; Carter MT; Scherer SW; Al-Qahtani MH; Zarrei M
Am J Med Genet A; 2016 Nov; 170(11):3018-3022. PubMed ID: 27531570
[TBL] [Abstract][Full Text] [Related]
6. Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder.
Fujii H; Sato N; Takanashi JI; Kimura Y; Morimoto E; Shigemoto Y; Suzuki F; Sasaki M; Sugimoto H
Brain Dev; 2020 Mar; 42(3):302-306. PubMed ID: 31882333
[TBL] [Abstract][Full Text] [Related]
7. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Bi W; Glass IA; Muzny DM; Gibbs RA; Eng CM; Yang Y; Sun A
Am J Med Genet A; 2016 Aug; 170(8):2181-5. PubMed ID: 27170158
[TBL] [Abstract][Full Text] [Related]
8. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL; Murdock DR; Burrage LC; Dai H; Lalani SR; Lewis RA; Lin Y; Astudillo MF; Rosenfeld JA; Tran AA; Gibson JB; ; Bacino CA; Lee BH; Chao HT
Am J Med Genet A; 2022 Jun; 188(6):1868-1874. PubMed ID: 35194938
[TBL] [Abstract][Full Text] [Related]
9. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Nishi E; Masuda K; Arakawa M; Kawame H; Kosho T; Kitahara M; Kubota N; Hidaka E; Katoh Y; Shirahige K; Izumi K
Am J Med Genet A; 2016 Nov; 170(11):2889-2894. PubMed ID: 27566442
[TBL] [Abstract][Full Text] [Related]
11. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Accogli A; Hamdan FF; Poulin C; Nassif C; Rouleau GA; Michaud JL; Srour M
Am J Med Genet A; 2018 Apr; 176(4):985-991. PubMed ID: 29430868
[TBL] [Abstract][Full Text] [Related]
12. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
[TBL] [Abstract][Full Text] [Related]
13. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y; Ergüner B; Utine E; Haçariz O; Kiper PO; Taşkıran EZ; Perçin F; Uz E; Sağiroğlu MŞ; Yuksel B; Boduroglu K; Akarsu NA
Am J Med Genet A; 2014 Feb; 164A(2):291-304. PubMed ID: 24194475
[TBL] [Abstract][Full Text] [Related]
16. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B; Schossig A; Haack TB; Kovács-Nagy R; Braunisch MC; Makowski C; Senderek J; Vill K; Müller-Felber W; Strom TM; Krabichler B; Freisinger P; Deshpande C; Polster T; Wolf NI; Desguerre I; Wörmann F; Rötig A; Ahting U; Kopajtich R; Prokisch H; Meitinger T; Feichtinger RG; Mayr JA; Jungbluth H; Hubmann M; Zschocke J; Distelmaier F; Koch J
Neuropediatrics; 2018 Oct; 49(5):330-338. PubMed ID: 29940663
[TBL] [Abstract][Full Text] [Related]
17. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng L; Donti T; Xia F; Niu Z; Al Shamsi A; Hertecant J; Al-Jasmi F; Gibson JB; Nagakura H; Zhang J; He W; Eng C; Yang Y; Elsea SH
Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A; Butt F; Tomei S; Deola S; Lo B; Robay A; Al-Shakaki A; Al-Hajri N; Crystal R; Kambouris M; Wang E; Marincola FM; Fakhro KA; Cugno C
BMC Med Genet; 2016 Nov; 17(1):84. PubMed ID: 27855655
[TBL] [Abstract][Full Text] [Related]
20. PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N
Clin Genet; 2018 Oct; 94(3-4):362-367. PubMed ID: 29797509
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]