107 related articles for article (PubMed ID: 31128170)
21. Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).
Li C; Tan X; Zhang J; Li S; Mo W; Han T; Kuang W; Zhou Y; Deng J
Sci China Life Sci; 2017 Dec; 60(12):1436-1444. PubMed ID: 29285715
[TBL] [Abstract][Full Text] [Related]
22. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C; Cucci RA; Prasad S; Green GE; Edeal JB; Galer CE; Karniski LP; Sheffield VC; Smith RJ
Hum Mutat; 2001 May; 17(5):403-11. PubMed ID: 11317356
[TBL] [Abstract][Full Text] [Related]
23. Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?
Talebizadeh Z; Bittel DC; Veatch OJ; Butler MG; Takahashi TN; Miles JH
J Autism Dev Disord; 2004 Dec; 34(6):735-6. PubMed ID: 15679194
[No Abstract] [Full Text] [Related]
24. Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ; van Zon P; Brueton L; Gijzen M; van Tuil MC; Cox P; Schanze D; Kariminejad A; Ghaderi-Sohi S; Blair E; Zenker M; Scambler PJ; Ploos van Amstel HK; van Haelst MM
J Med Genet; 2012 May; 49(5):303-6. PubMed ID: 22510445
[TBL] [Abstract][Full Text] [Related]
25. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome.
Finucane B; Dirrigl KH; Simon EW
Am J Ment Retard; 2001 Jan; 106(1):52-8. PubMed ID: 11246713
[TBL] [Abstract][Full Text] [Related]
26. Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.
Aoyama K; Amano H; Takaoka Y; Nishikomori R; Ishikawa O
Acta Derm Venereol; 2012 Jul; 92(4):395-8. PubMed ID: 22377911
[TBL] [Abstract][Full Text] [Related]
27. The requirement of histone modification by PRDM12 and Kdm4a for the development of pre-placodal ectoderm and neural crest in Xenopus.
Matsukawa S; Miwata K; Asashima M; Michiue T
Dev Biol; 2015 Mar; 399(1):164-176. PubMed ID: 25576027
[TBL] [Abstract][Full Text] [Related]
28. Self-injurious behavior: gene-brain-behavior relationships.
Schroeder SR; Oster-Granite ML; Berkson G; Bodfish JW; Breese GR; Cataldo MF; Cook EH; Crnic LS; DeLeon I; Fisher W; Harris JC; Horner RH; Iwata B; Jinnah HA; King BH; Lauder JM; Lewis MH; Newell K; Nyhan WL; Rojahn J; Sackett GP; Sandman C; Symons F; Tessel RE; Thompson T; Wong DF
Ment Retard Dev Disabil Res Rev; 2001; 7(1):3-12. PubMed ID: 11241877
[TBL] [Abstract][Full Text] [Related]
29. Functional analysis of the early development of self-injurious behavior: incorporating gene-environment interactions.
Langthorne P; McGill P
Am J Ment Retard; 2008 Sep; 113(5):403-17. PubMed ID: 18702559
[TBL] [Abstract][Full Text] [Related]
30. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.
Sandrini F; Farmakidis C; Kirschner LS; Wu SM; Tullio-Pelet A; Lyonnet S; Metzger DL; Bourdony CJ; Tiosano D; Chan WY; Stratakis CA
J Clin Endocrinol Metab; 2001 Nov; 86(11):5433-7. PubMed ID: 11701718
[TBL] [Abstract][Full Text] [Related]
31. MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Lambert L; Bienvenu T; Allou L; Valduga M; Echenne B; Diebold B; Mignot C; Héron D; Roth V; Saunier A; Moustaïne A; Jonveaux P; Philippe C
Clin Genet; 2012 Nov; 82(5):499-501. PubMed ID: 22449245
[No Abstract] [Full Text] [Related]
32. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
Bayat A; Kerr B; Douzgou S;
Clin Dysmorphol; 2017 Oct; 26(4):247-251. PubMed ID: 28288023
[No Abstract] [Full Text] [Related]
33. NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS; Stumpel C; Stong N; Brunner HG; Bier L; Lippa N; Riviello J; Rouhl RPW; Kempers M; Pfundt R; Stegmann APA; Kukolich MK; Telegrafi A; Lehman A; ; Lopez-Rangel E; Houcinat N; Barth M; den Hollander N; Hoffer MJV; Weckhuysen S; ; Roovers J; Djemie T; Barca D; Ceulemans B; Craiu D; Lemke JR; Korff C; Mefford HC; Meyers CT; Siegler Z; Hiatt SM; Cooper GM; Bebin EM; Snijders Blok L; Veenstra-Knol HE; Baugh EH; Brilstra EH; Volker-Touw CML; van Binsbergen E; Revah-Politi A; Pereira E; McBrian D; Pacault M; Isidor B; Le Caignec C; Gilbert-Dussardier B; Bilan F; Heinzen EL; Goldstein DB; Stevens SJC; Sands TT
Ann Neurol; 2018 Nov; 84(5):788-795. PubMed ID: 30269351
[TBL] [Abstract][Full Text] [Related]
34. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I; Nowak M; Mallah M; Chae JJ; Watford WT; Hofmann SR; Stein L; Russo R; Goldsmith D; Dent P; Rosenberg HF; Austin F; Remmers EF; Balow JE; Rosenzweig S; Komarow H; Shoham NG; Wood G; Jones J; Mangra N; Carrero H; Adams BS; Moore TL; Schikler K; Hoffman H; Lovell DJ; Lipnick R; Barron K; O'Shea JJ; Kastner DL; Goldbach-Mansky R
Arthritis Rheum; 2002 Dec; 46(12):3340-8. PubMed ID: 12483741
[TBL] [Abstract][Full Text] [Related]
35. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Santiago Borrero PJ; Rodríguez-Pérez Y; Renta JY; Izquierdo NJ; Del Fierro L; Muñoz D; Molina NL; Ramírez S; Pagán-Mercado G; Ortíz I; Rivera-Caragol E; Spritz RA; Cadilla CL
J Invest Dermatol; 2006 Jan; 126(1):85-90. PubMed ID: 16417222
[TBL] [Abstract][Full Text] [Related]
36. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
Hentgen V; Despert V; Leprêtre AC; Cuisset L; Chevrant-Breton J; Jégo P; Chalès G; Gall EL; Delpech M; Grateau G
J Rheumatol; 2005 Apr; 32(4):747-51. PubMed ID: 15801036
[TBL] [Abstract][Full Text] [Related]
37. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A; Ajeawung NF; Bozorgmehr B; Dionne-Laporte A; Molidperee S; Najafi K; Gibbs RA; Lee BH; Hennekam RC; Campeau PM
J Hum Genet; 2017 Apr; 62(4):465-471. PubMed ID: 28003643
[TBL] [Abstract][Full Text] [Related]
38. Self-injurious behaviour as part of genetic syndromes.
Deb S
Br J Psychiatry; 1998 May; 172():385-8. PubMed ID: 9747398
[TBL] [Abstract][Full Text] [Related]
39. The genetic landscape of familial congenital hydrocephalus.
Shaheen R; Sebai MA; Patel N; Ewida N; Kurdi W; Altweijri I; Sogaty S; Almardawi E; Seidahmed MZ; Alnemri A; Madirevula S; Ibrahim N; Abdulwahab F; Hashem M; Al-Sheddi T; Alomar R; Alobeid E; Sallout B; AlBaqawi B; AlAali W; Ajaji N; Lesmana H; Hopkin RJ; Dupuis L; Mendoza-Londono R; Al Rukban H; Yoon G; Faqeih E; Alkuraya FS
Ann Neurol; 2017 Jun; 81(6):890-897. PubMed ID: 28556411
[TBL] [Abstract][Full Text] [Related]
40. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E; Chavanas S; DiGiovanna JJ; Amin S; Nielsen K; Prendiville JS; Silverman R; Esterly NB; Spraker MK; Guelig E; de Luna ML; Williams ML; Buehler B; Siegfried EC; Van Maldergem L; Pfendner E; Bale SJ; Uitto J; Hovnanian A; Richard G
J Invest Dermatol; 2001 Aug; 117(2):179-87. PubMed ID: 11511292
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
