BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 30723320)

  • 21. 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]  

  • 22. Bi-allelic
    Rasheed A; Gumus E; Zaki M; Johnson K; Manzoor H; LaForce G; Ross D; McEvoy-Venneri J; Stanley V; Lee S; Virani A; Ben-Omran T; Gleeson JG; Naz S; Schaffer A
    J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation.
    Xiao TL; Rosenblatt AE
    Pediatr Dermatol; 2022 Nov; 39(6):997-999. PubMed ID: 35830358
    [TBL] [Abstract][Full Text] [Related]  

  • 24. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
    Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.
    Ansar M; Jan A; Santos-Cortez RL; Wang X; Suliman M; Acharya A; Habib R; Abbe I; Ali G; Lee K; Smith JD; ; Nickerson DA; Shendure J; Bamshad MJ; Ahmad W; Leal SM
    Eur J Hum Genet; 2016 Aug; 24(8):1223-7. PubMed ID: 26695873
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
    Jezela-Stanek A; Szczepanik E; Mierzewska H; Rydzanicz M; Rutkowska K; Knaus A; Śmigiel R; Stępniak I; Markiewicz MG; Boniel S; Krawitz P; Płoski R
    Clin Genet; 2020 Nov; 98(5):468-476. PubMed ID: 32725661
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
    Zaki MS; Accogli A; Mirzaa G; Rahman F; Mohammed H; Porras-Hurtado GL; Efthymiou S; Maqbool S; Shukla A; Vincent JB; Hussain A; Mir A; Beetz C; Leubauer A; Houlden H; Gleeson JG; Maroofian R
    Eur J Hum Genet; 2021 Aug; 29(8):1226-1234. PubMed ID: 34163010
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
    Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
    J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
    Rahikkala E; Myllykoski M; Hinttala R; Vieira P; Nayebzadeh N; Weiss S; Plomp AS; Bittner RE; Kurki MI; Kuismin O; Lewis AM; Väisänen ML; Kokkonen H; Westermann J; Bernert G; Tuominen H; Palotie A; Aaltonen L; Yang Y; Potocki L; Moilanen J; van Koningsbruggen S; Wang X; Schmidt WM; Koivunen P; Uusimaa J
    Genet Med; 2019 Oct; 21(10):2355-2363. PubMed ID: 30940925
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
    Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Biallelic variants in Plexin B2 (
    Smith CEL; Laugel-Haushalter V; Hany U; Best S; Taylor RL; Poulter JA; Wortmann SB; Feichtinger RG; Mayr JA; Al Bahlani S; Nikolopoulos G; Rigby A; Black GC; Watson CM; Mansour S; Inglehearn CF; Mighell AJ; Bloch-Zupan A;
    J Med Genet; 2024 Jun; 61(7):689-698. PubMed ID: 38458752
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
    Fozia F; Shah K; Nazli R; Khan SA; Ahmad I; Mohammad N; Khan S; Alotaibi A
    J Clin Lab Anal; 2022 Jan; 36(1):e24127. PubMed ID: 34877714
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
    Assoum M; Philippe C; Isidor B; Perrin L; Makrythanasis P; Sondheimer N; Paris C; Douglas J; Lesca G; Antonarakis S; Hamamy H; Jouan T; Duffourd Y; Auvin S; Saunier A; Begtrup A; Nowak C; Chatron N; Ville D; Mireskandari K; Milani P; Jonveaux P; Lemeur G; Milh M; Amamoto M; Kato M; Nakashima M; Miyake N; Matsumoto N; Masri A; Thauvin-Robinet C; Rivière JB; Faivre L; Thevenon J
    Am J Hum Genet; 2016 Dec; 99(6):1368-1376. PubMed ID: 27889060
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
    Davids M; Menezes M; Guo Y; McLean SD; Hakonarson H; Collins F; Worgan L; Billington CJ; Maric I; Littlejohn RO; Onyekweli T; Members Of The Udn ; Adams DR; Tifft CJ; Gahl WA; Wolfe LA; Christodoulou J; Malicdan MCV
    Mol Genet Metab; 2020 May; 130(1):49-57. PubMed ID: 32165008
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
    Zhang Y; Kong W; Gao Y; Liu X; Gao K; Xie H; Wu Y; Zhang Y; Wang J; Gao F; Wu X; Jiang Y
    PLoS One; 2015; 10(11):e0141782. PubMed ID: 26544041
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
    Mary L; Nourisson E; Feger C; Laugel V; Chaigne D; Keren B; Afenjar A; Billette T; Trost D; Cieuta-Walti C; Gerard B; Piton A; Schaefer E
    Am J Med Genet A; 2021 Jun; 185(6):1803-1815. PubMed ID: 33754465
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
    Yasin M; Licchetta L; Khan N; Ullah I; Jan Z; Dawood M; Ahmed AN; Azeem A; Minardi R; Carelli V; Saleha S
    BMC Neurol; 2024 May; 24(1):172. PubMed ID: 38783254
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Missense Variant in
    Usmani MA; Ghaffar A; Shahzad M; Akram J; Majeed AI; Malik K; Fatima K; Khan AA; Ahmed ZM; Riazuddin S; Riazuddin S
    Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790209
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.