220 related articles for article (PubMed ID: 10641614)
21. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P; Kimber E; Wahlström J; Annerén G
Am J Med Genet; 1999 Feb; 82(4):348-51. PubMed ID: 10051171
[TBL] [Abstract][Full Text] [Related]
22. Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.
Podruch PE; Yen FS; Dinno ND; Weisskopf B
J Med Genet; 1982 Oct; 19(5):377-80. PubMed ID: 7143392
[TBL] [Abstract][Full Text] [Related]
23. [Complete chromosome 22 trisomy syndrome in 2 children with microcephaly and mental retardation].
Novikov PV; Zaletaeva TA; Khuberian NB; Khlybova GP
Pediatriia; 1990; (2):89-92. PubMed ID: 2349049
[No Abstract] [Full Text] [Related]
24. Features of autism in Rett syndrome and severe mental retardation.
Mount RH; Charman T; Hastings RP; Reilly S; Cass H
J Autism Dev Disord; 2003 Aug; 33(4):435-42. PubMed ID: 12959422
[TBL] [Abstract][Full Text] [Related]
25. The ironies of human mind: a case of Rett syndrome.
Chattopadhyay S; Arora R
Ethiop J Health Sci; 2014 Apr; 24(2):171-4. PubMed ID: 24795519
[TBL] [Abstract][Full Text] [Related]
26. The Rett and Rett-like syndromes: a broad concept.
Lin MY; Wang PJ; Lin LH; Shen YZ
Brain Dev; 1991 Jul; 13(4):228-31. PubMed ID: 1957970
[TBL] [Abstract][Full Text] [Related]
27. A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Siavrienė E; Preikšaitienė E; Maldžienė Ž; Mikštienė V; Rančelis T; Ambrozaitytė L; Gueneau L; Reymond A; Kučinskas V
Gene; 2020 Aug; 753():144816. PubMed ID: 32473250
[TBL] [Abstract][Full Text] [Related]
28. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
Meinecke P
Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190
[TBL] [Abstract][Full Text] [Related]
29. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.
Hammer S; Dorrani N; Dragich J; Kudo S; Schanen C
Ment Retard Dev Disabil Res Rev; 2002; 8(2):94-8. PubMed ID: 12112734
[TBL] [Abstract][Full Text] [Related]
30. Genetic disorders associated with postnatal microcephaly.
Seltzer LE; Paciorkowski AR
Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
[TBL] [Abstract][Full Text] [Related]
31. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Papa FT; Mencarelli MA; Caselli R; Katzaki E; Sampieri K; Meloni I; Ariani F; Longo I; Maggio A; Balestri P; Grosso S; Farnetani MA; Berardi R; Mari F; Renieri A
Am J Med Genet A; 2008 Aug; 146A(15):1994-8. PubMed ID: 18627055
[TBL] [Abstract][Full Text] [Related]
32. Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.
De Bruyn C; Vanderhasselt T; Tanyalçin I; Keymolen K; Van Rompaey KL; De Meirleir L; Jansen AC
Eur J Paediatr Neurol; 2014 May; 18(3):420-6. PubMed ID: 24388699
[TBL] [Abstract][Full Text] [Related]
33. Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG; Lonardo F; Ceccarini C; Cesarano C; Digilio MC; Magliozzi M; Rogaia D; Mencarelli A; Leoni C; Piscopo C; Imperatore V; Falco MT; Fontana P; Nardone AM; Novelli A; Troiani S; Seri M; Prontera P
Am J Med Genet A; 2021 Apr; 185(4):1204-1210. PubMed ID: 33442900
[TBL] [Abstract][Full Text] [Related]
34. X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
Ogle R; DeSouza M; Cunningham C; Kerr B; Sillence D
J Med Genet; 1994 Mar; 31(3):245-7. PubMed ID: 8014976
[TBL] [Abstract][Full Text] [Related]
35. Rett syndrome--a review and discussion of syndrome delineation and syndrome definition.
Opitz JM; Lewin SO
Brain Dev; 1987; 9(5):445-50. PubMed ID: 3324794
[TBL] [Abstract][Full Text] [Related]
36. Rett variants: a suggested model for inclusion criteria.
Hagberg BA; Skjeldal OH
Pediatr Neurol; 1994 Jul; 11(1):5-11. PubMed ID: 7986294
[TBL] [Abstract][Full Text] [Related]
37. [Rett syndrome: clinical and molecular aspects].
Záhoráková D; Zeman J; Martásek P
Cas Lek Cesk; 2007; 146(8):647-52. PubMed ID: 17874730
[TBL] [Abstract][Full Text] [Related]
38. MECP2 abnormality phenotypes: clinicopathologic area with broad variability.
Erlandson A; Hagberg B
J Child Neurol; 2005 Sep; 20(9):727-32. PubMed ID: 16225826
[TBL] [Abstract][Full Text] [Related]
39. A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.
Yu X; Hu L; Liu X; Zhan G; Mei M; Wang H; Zhang X; Qiu Z; Zhou W; Yang L
Neurosci Bull; 2018 Oct; 34(5):854-858. PubMed ID: 29786759
[No Abstract] [Full Text] [Related]
40. Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.
Condie J; Goldstein J; Wainwright MS
J Child Neurol; 2010 May; 25(5):633-6. PubMed ID: 20142466
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]