124 related articles for article (PubMed ID: 25490023)
1. Primordial dwarfism: an update.
Alkuraya FS
Curr Opin Endocrinol Diabetes Obes; 2015 Feb; 22(1):55-64. PubMed ID: 25490023
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
Shaheen R; Al Tala S; Almoisheer A; Alkuraya FS
J Med Genet; 2014 Dec; 51(12):814-6. PubMed ID: 25320347
[TBL] [Abstract][Full Text] [Related]
5. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS; Walker S; Klingseisen A; Stiff T; Leitch A; Kerzendorfer C; Martin CA; Yeyati P; Al Sanna N; Bober M; Johnson D; Wise C; Jackson AP; O'Driscoll M; Jeggo PA
Nat Genet; 2011 Feb; 43(4):350-5. PubMed ID: 21358633
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A; Thiel CT; Schindler D; Wick U; Crow YJ; Ekici AB; van Essen AJ; Goecke TO; Al-Gazali L; Chrzanowska KH; Zweier C; Brunner HG; Becker K; Curry CJ; Dallapiccola B; Devriendt K; Dörfler A; Kinning E; Megarbane A; Meinecke P; Semple RK; Spranger S; Toutain A; Trembath RC; Voss E; Wilson L; Hennekam R; de Zegher F; Dörr HG; Reis A
Science; 2008 Feb; 319(5864):816-9. PubMed ID: 18174396
[TBL] [Abstract][Full Text] [Related]
7. Primordial dwarfism: overview of clinical and genetic aspects.
Khetarpal P; Das S; Panigrahi I; Munshi A
Mol Genet Genomics; 2016 Feb; 291(1):1-15. PubMed ID: 26323792
[TBL] [Abstract][Full Text] [Related]
8. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R; Faqeih E; Shamseldin HE; Noche RR; Sunker A; Alshammari MJ; Al-Sheddi T; Adly N; Al-Dosari MS; Megason SG; Al-Husain M; Al-Mohanna F; Alkuraya FS
Am J Hum Genet; 2012 Aug; 91(2):330-6. PubMed ID: 22840364
[TBL] [Abstract][Full Text] [Related]
9. Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.
Perry LD; Robertson F; Ganesan V
Pediatr Neurol; 2013 Apr; 48(4):294-8. PubMed ID: 23498563
[TBL] [Abstract][Full Text] [Related]
10. Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.
Lin HJ; Sue GY; Berkowitz CD; Brasel JA; Lachman RS
Am J Med Genet; 1995 Aug; 58(2):136-42. PubMed ID: 8533804
[TBL] [Abstract][Full Text] [Related]
11. Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.
McIntyre RE; Lakshminarasimhan Chavali P; Ismail O; Carragher DM; Sanchez-Andrade G; Forment JV; Fu B; Del Castillo Velasco-Herrera M; Edwards A; van der Weyden L; Yang F; ; Ramirez-Solis R; Estabel J; Gallagher FA; Logan DW; Arends MJ; Tsang SH; Mahajan VB; Scudamore CL; White JK; Jackson SP; Gergely F; Adams DJ
PLoS Genet; 2012; 8(11):e1003022. PubMed ID: 23166506
[TBL] [Abstract][Full Text] [Related]
12. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME; Murina O; Leitch A; Higgs MR; Bicknell LS; Yigit G; Blackford AN; Zlatanou A; Mackenzie KJ; Reddy K; Halachev M; McGlasson S; Reijns MAM; Fluteau A; Martin CA; Sabbioneda S; Elcioglu NH; Altmüller J; Thiele H; Greenhalgh L; Chessa L; Maghnie M; Salim M; Bober MB; Nürnberg P; Jackson SP; Hurles ME; Wollnik B; Stewart GS; Jackson AP
Nat Genet; 2016 Jan; 48(1):36-43. PubMed ID: 26595769
[TBL] [Abstract][Full Text] [Related]
13. Mechanisms and pathways of growth failure in primordial dwarfism.
Klingseisen A; Jackson AP
Genes Dev; 2011 Oct; 25(19):2011-24. PubMed ID: 21979914
[TBL] [Abstract][Full Text] [Related]
14. [Differential diagnostic considerations in microcephalic dwarfism].
Kraft CN; Diedrich O; Wagner U; Schmitt O
Z Orthop Ihre Grenzgeb; 2000; 138(2):126-30. PubMed ID: 10820877
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
Kilic E; Yigit G; Utine GE; Wollnik B; Mihci E; Nur BG; Boduroglu K
Am J Med Genet A; 2015 Apr; 167A(4):919-21. PubMed ID: 25735804
[No Abstract] [Full Text] [Related]
16. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Koparir A; Karatas OF; Yuceturk B; Yuksel B; Bayrak AO; Gerdan OF; Sagiroglu MS; Gezdirici A; Kirimtay K; Selcuk E; Karabay A; Creighton CJ; Yuksel A; Ozen M
Hum Mol Genet; 2015 Oct; 24(19):5378-87. PubMed ID: 26162852
[TBL] [Abstract][Full Text] [Related]
17. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
Winter RM; Wigglesworth J; Harding BN
Am J Med Genet; 1985 Jul; 21(3):569-74. PubMed ID: 4025388
[TBL] [Abstract][Full Text] [Related]
18. An apparently new syndrome of microcephalic primordial dwarfism and cataracts.
Toriello HV; Horton WA; Oostendorp A; Waterman DF; Higgins JV
Am J Med Genet; 1986 Sep; 25(1):1-8. PubMed ID: 3799711
[TBL] [Abstract][Full Text] [Related]
19. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Unal S; Alanay Y; Cetin M; Boduroglu K; Utine E; Cormier-Daire V; Huber C; Ozsurekci Y; Kilic E; Simsek Kiper OP; Gumruk F
Pediatr Blood Cancer; 2014 Feb; 61(2):302-5. PubMed ID: 24106199
[TBL] [Abstract][Full Text] [Related]
20. Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Tarnauskaitė Ž; Bicknell LS; Marsh JA; Murray JE; Parry DA; Logan CV; Bober MB; de Silva DC; Duker AL; Sillence D; Wise C; Jackson AP; Murina O; Reijns MAM
Hum Mutat; 2019 Aug; 40(8):1063-1070. PubMed ID: 31045292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
