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 *

149 related articles for article (PubMed ID: 37605493)

  • 1. A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
    Zhao W; Zhang Y; Lv T; He J; Zhu B
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2273. PubMed ID: 37605493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
    Zhao J; Lyu G; Ding C; Wang X; Li J; Zhang W; Yang X; Zhang VW
    Mol Genet Genomic Med; 2022 Mar; 10(3):e1825. PubMed ID: 35156329
    [TBL] [Abstract][Full Text] [Related]  

  • 3. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
    Burkardt DD; Zachariou A; Loveday C; Allen CL; Amor DJ; Ardissone A; Banka S; Bourgois A; Coubes C; Cytrynbaum C; Faivre L; Marion G; Horton R; Kotzot D; Lay-Son G; Lees M; Low K; Luk HM; Mark P; McConkie-Rosell A; McDonald M; Pappas J; Phillipe C; Shears D; Skotko B; Stewart F; Stewart H; Temple IK; Mau-Them FT; Verdugo RA; Weksberg R; Zarate YA; Graham JM; Tatton-Brown K
    Am J Med Genet A; 2019 Oct; 179(10):2049-2055. PubMed ID: 31400068
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
    Quan Y; Zhang Q; Chen M; Wu H; Ou J; Shen Y; Li K; Xun G; Zhao J; Hu Z; Xia K; Guo H
    J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Growth pattern of Rahman syndrome.
    Takenouchi T; Uehara T; Kosaki K; Mizuno S
    Am J Med Genet A; 2018 Mar; 176(3):712-714. PubMed ID: 29383847
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
    Duffney LJ; Valdez P; Tremblay MW; Cao X; Montgomery S; McConkie-Rosell A; Jiang YH
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):426-433. PubMed ID: 29704315
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
    Li Y; Jia X; Wu H; Xun G; Ou J; Zhang Q; Li H; Bai T; Hu Z; Zou X; Xia K; Guo H
    Am J Med Genet A; 2018 Dec; 176(12):2668-2676. PubMed ID: 30537371
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.
    Indugula SR; Ayala SS; Vetrini F; Belonis A; Zhang W
    Clin Case Rep; 2022 Feb; 10(2):e05370. PubMed ID: 35154720
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
    Li D; Zhou B; Tian X; Chen X; Wang Y; Hao S; Zhang C; Hui L
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2327. PubMed ID: 38037515
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
    Chen M; Quan Y; Duan G; Wu H; Bai T; Wang Y; Zhou S; Ou J; Shen Y; Hu Z; Xia K; Guo H
    Eur J Med Genet; 2021 May; 64(5):104200. PubMed ID: 33766796
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 14. POGZ de novo missense variants in neuropsychiatric disorders.
    Zhao W; Quan Y; Wu H; Han L; Bai T; Ma L; Li B; Xun G; Ou J; Zhao J; Hu Z; Guo H; Xia K
    Mol Genet Genomic Med; 2019 Sep; 7(9):e900. PubMed ID: 31347273
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
    Ciolfi A; Aref-Eshghi E; Pizzi S; Pedace L; Miele E; Kerkhof J; Flex E; Martinelli S; Radio FC; Ruivenkamp CAL; Santen GWE; Bijlsma E; Barge-Schaapveld D; Ounap K; Siu VM; Kooy RF; Dallapiccola B; Sadikovic B; Tartaglia M
    Clin Epigenetics; 2020 Jan; 12(1):7. PubMed ID: 31910894
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR; Brummelman I; Martis LM; Timmermans RN; Pfundt R; Kleefstra T; Willemsen MH; Gerkes EH; Herkert JC; van Essen AJ; Rump P; Vansenne F; Terhal PA; van Haelst MM; Cristian I; Turner CE; Cho MT; Begtrup A; Willaert R; Fassi E; van Gassen KLI; Stegmann APA; de Vries BBA; Schuurs-Hoeijmakers JHM
    Clin Genet; 2018 May; 93(5):1000-1007. PubMed ID: 29393965
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A journey towards answers: Bonnie Odgers Meets Dr. John Graham.
    Scott AL; Odgers B
    Am J Med Genet A; 2021 Sep; 185(9):2627-2629. PubMed ID: 33881201
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.