These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

104 related articles for article (PubMed ID: 25370018)

  • 1. A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
    Ołdak M; Ruszkowska E; Pollak A; Sobczyk-Kopcioł A; Kowalewski C; Piwońska A; Drygas W; Płoski R
    Eur J Pediatr; 2015 May; 174(5):693-6. PubMed ID: 25370018
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
    Ołdak M; Ścieżyńska A; Młynarski W; Borowiec M; Ruszkowska E; Szulborski K; Pollak A; Kosińska J; Mueller-Malesińska M; Stawiński P; Szaflik JP; Płoski R
    Hum Mutat; 2014 Oct; 35(10):1171-4. PubMed ID: 25044830
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
    Lee J; Wong S; Boles RG
    Eur J Pediatr; 2014 Jul; 173(7):967-9. PubMed ID: 24863632
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
    Bianco AM; Faletra F; Vozzi D; Girardelli M; Knowles A; Tommasini A; Zauli G; Marcuzzi A
    Mol Med Rep; 2015 Oct; 12(4):6128-32. PubMed ID: 26300074
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
    Bedoyan JK; Schaibley VM; Peng W; Bai Y; Mondal K; Shetty AC; Durham M; Micucci JA; Dhiraaj A; Skidmore JM; Kaplan JB; Skinner C; Schwartz CE; Antonellis A; Zwick ME; Cavalcoli JD; Li JZ; Martin DM
    J Med Genet; 2012 May; 49(5):332-40. PubMed ID: 22581972
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Preiksaitiene E; Caro A; Benušienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F
    Am J Med Genet A; 2015 Jun; 167(6):1342-8. PubMed ID: 25900314
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Simpson-Golabi-Behmel syndrome types I and II.
    Tenorio J; Arias P; Martínez-Glez V; Santos F; García-Miñaur S; Nevado J; Lapunzina P
    Orphanet J Rare Dis; 2014 Sep; 9():138. PubMed ID: 25238977
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.
    Kehrer C; Hoischen A; Menkhaus R; Schwab E; Müller A; Kim S; Kreiß M; Weitensteiner V; Hilger A; Berg C; Geipel A; Reutter H; Gembruch U
    Prenat Diagn; 2016 Oct; 36(10):961-965. PubMed ID: 27589329
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
    Vuillaume ML; Moizard MP; Baumer A; Cottereau E; Brioude F; Rauch A; Toutain A
    Eur J Hum Genet; 2019 Apr; 27(4):663-668. PubMed ID: 30683921
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
    Domínguez-Ruiz M; García-Martínez A; Corral-Juan M; Pérez-Álvarez ÁI; Plasencia AM; Villamar M; Moreno-Pelayo MA; Matilla-Dueñas A; Menéndez-González M; Del Castillo I
    J Transl Med; 2019 Aug; 17(1):290. PubMed ID: 31455392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
    Eppley S; Hopkin RJ; Mendelsohn B; Slavotinek AM
    Am J Med Genet A; 2017 Nov; 173(11):3075-3081. PubMed ID: 28960803
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
    Shukla A; Girisha KM; Somashekar PH; Nampoothiri S; McClellan R; Vernon HJ
    Am J Med Genet A; 2019 May; 179(5):870-874. PubMed ID: 30941876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
    Latchman K; Calder M; Morel D; Rhodes L; Juusola J; Tekin M
    Am J Med Genet A; 2020 Mar; 182(3):548-552. PubMed ID: 31833199
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
    Lah M; Niranjan T; Srikanth S; Holloway L; Schwartz CE; Wang T; Weaver DD
    Am J Med Genet A; 2016 Apr; 170A(4):881-90. PubMed ID: 26804200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
    Cobben JM; Weiss MM; van Dijk FS; De Reuver R; de Kruiff C; Pondaag W; Hennekam RC; Yntema HG
    Eur J Med Genet; 2014; 57(11-12):636-8. PubMed ID: 25281490
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Renpenning syndrome in a female.
    Cho RY; Peñaherrera MS; Du Souich C; Huang L; Mwenifumbo J; Nelson TN; Elliott AM; Adam S; ; Eydoux P; Yang GX; Chijiwa C; Van Allen MI; Friedman JM; Robinson WP; Lehman A
    Am J Med Genet A; 2020 Mar; 182(3):498-503. PubMed ID: 31840929
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
    Alkhouri N; Kaplan B; Kay M; Shealy A; Crowe C; Bauhuber S; Zenker M
    World J Gastroenterol; 2008 Nov; 14(44):6863-6. PubMed ID: 19058315
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
    Parida P; Dubbudu A; Biswal SR; Sharawat IK; Panda PK
    Brain Dev; 2021 Feb; 43(2):314-319. PubMed ID: 33092935
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
    Lipska BS; Brzeskwiniewicz M; Wierzba J; Morzuchi L; Piotrowski A; Limon J
    Genet Couns; 2011; 22(4):353-63. PubMed ID: 22303795
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.