267 related articles for article (PubMed ID: 8474111)
1. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
Bonthron DT; Barlow KM; Burt AM; Barr DG
J Med Genet; 1993 Mar; 30(3):255-6. PubMed ID: 8474111
[TBL] [Abstract][Full Text] [Related]
2. A Japanese boy with Young-Simpson syndrome.
Nakamura T; Noma S
Acta Paediatr Jpn; 1997 Aug; 39(4):472-4. PubMed ID: 9316295
[TBL] [Abstract][Full Text] [Related]
3. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A; Bremond-Gignac D; Isidor B; David A; Baumann C; Leroy MA; Stevens R; Gillerot Y; Héron D; Héron B; Benzacken B; Lacombe D; Brunner H; Bitoun P
Am J Med Genet A; 2006 Jun; 140(12):1285-96. PubMed ID: 16700052
[TBL] [Abstract][Full Text] [Related]
4. Congenital hypothyroidism in Young-Simpson syndrome.
Stagi S; Bindi G; Lapi E; Giovannucci-Uzielli ML; Salti R; Chiarelli F
J Pediatr Endocrinol Metab; 2008 Nov; 21(11):1089-92. PubMed ID: 19189705
[TBL] [Abstract][Full Text] [Related]
5. Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.
Brancati F; Bernardini L; Cavalcanti DP; Romano C; Novelli A; Dallapiccola B
Clin Genet; 2009 Aug; 76(2):210-3. PubMed ID: 19659891
[No Abstract] [Full Text] [Related]
6. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
Cavalcanti DP
J Med Genet; 1989 Dec; 26(12):785-6. PubMed ID: 2614801
[TBL] [Abstract][Full Text] [Related]
7. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
Szakszon K; Salpietro C; Kakar N; Knegt AC; Oláh É; Dallapiccola B; Borck G
Am J Med Genet A; 2013 Apr; 161A(4):884-8. PubMed ID: 23436491
[TBL] [Abstract][Full Text] [Related]
8. A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.
Marques-de-faria AP; Maciel-Guerra AT; Júnior GG; Baptista MT
Clin Dysmorphol; 2000 Jul; 9(3):199-204. PubMed ID: 10955481
[TBL] [Abstract][Full Text] [Related]
9. Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT; de Vries BB; van Bon BW; Hoischen A; Ruiterkamp-Versteeg M; Gilissen C; Gao F; van Zwam M; Harteveld CL; van Essen AJ; Hamel BC; Kleefstra T; Willemsen MA; Yntema HG; van Bokhoven H; Brunner HG; Boyer TG; de Brouwer AP
Am J Hum Genet; 2013 Mar; 92(3):401-6. PubMed ID: 23395478
[TBL] [Abstract][Full Text] [Related]
10. Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
Lyonnet S; Schwartz G; Gatin G; de Prost Y; Munnich A; Le Merrer M
J Med Genet; 1992 Jan; 29(1):68-9. PubMed ID: 1552551
[TBL] [Abstract][Full Text] [Related]
11. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G; Di Giacomo MC; Lattante S; Orteschi D; Patrizi S; Doronzio PN; Riviello FN; Vaisfeld A; Frangella S; Zollino M
Am J Med Genet A; 2018 Feb; 176(2):455-459. PubMed ID: 29226580
[TBL] [Abstract][Full Text] [Related]
12. A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.
Stoll C; Alembik Y; Lutz P
Genet Couns; 1994; 5(2):161-5. PubMed ID: 7917125
[TBL] [Abstract][Full Text] [Related]
13. A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
Sonoda T; Ohdo S; Madokoro H; Ohba K
J Med Genet; 1988 Oct; 25(10):711-3. PubMed ID: 3225826
[TBL] [Abstract][Full Text] [Related]
14. A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Mendez R; Delea M; Dain L; Rittler M
Clin Dysmorphol; 2020 Jan; 29(1):42-45. PubMed ID: 30921092
[No Abstract] [Full Text] [Related]
15. Cardio-facio cutaneous syndrome: neurological manifestations.
Gross-Tsur V; Gross-Kieselstein E; Amir N
Clin Genet; 1990 Nov; 38(5):382-6. PubMed ID: 2149308
[TBL] [Abstract][Full Text] [Related]
16. A new X linked syndrome with mental retardation and craniofacial dysmorphism?
Hyde-Forster I; McCarthy G; Berry AC
J Med Genet; 1992 Oct; 29(10):736-8. PubMed ID: 1433236
[TBL] [Abstract][Full Text] [Related]
17. Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.
Masuno M; Imaizumi K; Okada T; Adachi M; Nishimura G; Ishii T; Tachibana K; Kuroki Y
Am J Med Genet; 1999 May; 84(1):8-11. PubMed ID: 10213038
[TBL] [Abstract][Full Text] [Related]
18. Thomas syndrome: clinical variability and autosomal recessive inheritance.
Briscioli V; Lalatta F; Rizzuti T; Fesslová V
Am J Med Genet; 1997 Aug; 71(3):373-4. PubMed ID: 9268113
[No Abstract] [Full Text] [Related]
19. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J; Hyblova M; Durovcikova D; Hikkelova M; Fiedler E; Kadasi L; Turna J; Minarik G; Szemes T
Clin Genet; 2017 Feb; 91(2):339-343. PubMed ID: 27452416
[TBL] [Abstract][Full Text] [Related]
20. De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.
Li G; Li N; Li J; Ding Y; Yu T; Wang X; Wang J
Fetal Pediatr Pathol; 2017 Apr; 36(2):130-138. PubMed ID: 28426343
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]