129 related articles for article (PubMed ID: 37265362)
1. Consideration of the thoracic phenotype of cerebro-costo-mandibular syndrome.
Keeling H; Williams EJ; Itasaki N
Clin Anat; 2024 Apr; 37(3):254-269. PubMed ID: 37265362
[TBL] [Abstract][Full Text] [Related]
2. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Tooley M; Lynch D; Bernier F; Parboosingh J; Bhoj E; Zackai E; Calder A; Itasaki N; Wakeling E; Scott R; Lees M; Clayton-Smith J; Blyth M; Morton J; Shears D; Kini U; Homfray T; Clarke A; Barnicoat A; Wallis C; Hewitson R; Offiah A; Saunders M; Langton-Hewer S; Hilliard T; Davis P; Smithson S
Am J Med Genet A; 2016 May; 170A(5):1115-26. PubMed ID: 26971886
[TBL] [Abstract][Full Text] [Related]
3. Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome.
Turner BRH; Itasaki N
J Anat; 2020 May; 236(5):931-945. PubMed ID: 31884688
[TBL] [Abstract][Full Text] [Related]
4. Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome.
Ogasawara K; Honda Y; Hosoya M
Pediatr Int; 2014 Aug; 56(4):613-5. PubMed ID: 25252050
[TBL] [Abstract][Full Text] [Related]
5. A case of severe type of cerebro-costo-mandibular syndrome.
Matić A; Velisavljev-Filipović G; Lovrenski J; Gajdobranski D
Srp Arh Celok Lek; 2016; 144(7-8):431-5. PubMed ID: 29652453
[TBL] [Abstract][Full Text] [Related]
6. Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.
Ramaswamy P; Negus S; Homfray T; De Rooy L
Arch Dis Child Fetal Neonatal Ed; 2016 Jan; 101(1):F85. PubMed ID: 26240113
[No Abstract] [Full Text] [Related]
7. Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation.
Watson TA; Arthurs OJ; Muthialu N; Calder AD
Skeletal Radiol; 2014 Feb; 43(2):263-6. PubMed ID: 24100706
[TBL] [Abstract][Full Text] [Related]
8. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.
Bacrot S; Doyard M; Huber C; Alibeu O; Feldhahn N; Lehalle D; Lacombe D; Marlin S; Nitschke P; Petit F; Vazquez MP; Munnich A; Cormier-Daire V
Hum Mutat; 2015 Feb; 36(2):187-90. PubMed ID: 25504470
[TBL] [Abstract][Full Text] [Related]
9. Cerebro-costo-mandibular syndrome.
Plötz FB; van Essen AJ; Bosschaart AN; Bos AP
Am J Med Genet; 1996 Mar; 62(3):286-92. PubMed ID: 8882789
[TBL] [Abstract][Full Text] [Related]
10. Cerebro-costo-mandibular syndrome: prognosis and proposal for classification.
Nagasawa H; Yamamoto Y; Kohno Y
Congenit Anom (Kyoto); 2010 Sep; 50(3):171-4. PubMed ID: 20507350
[TBL] [Abstract][Full Text] [Related]
11. Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.
Tay YL
Clin Genet; 2015 Jan; 87(1):32-3. PubMed ID: 25174690
[No Abstract] [Full Text] [Related]
12. [Cerebro-costo-mandibular syndrome. A case-report].
Ech-Cherif El Kettani N; Dafiri R
Arch Pediatr; 2004 Feb; 11(2):115-7. PubMed ID: 14761732
[TBL] [Abstract][Full Text] [Related]
13. Ocular Features of Cerebro-Costo-Mandibular Syndrome.
Hameed Z; Taylor S; Lindfield D
J Glaucoma; 2018 Jan; 27(1):e21-e23. PubMed ID: 29117007
[TBL] [Abstract][Full Text] [Related]
14. A Newborn with Extremely Rare Cerebro-Costo-Mandibular Syndrome; A Case Report Study.
Mirfazeli A; Shariatalavi R; Lashkarbolouk N; Lahoti D; Mazandarani M
Cleft Palate Craniofac J; 2023 Apr; ():10556656231170994. PubMed ID: 37093738
[TBL] [Abstract][Full Text] [Related]
15. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?
Kirk EP; Arbuckle S; Ramm PL; Adès LC
Am J Med Genet; 1999 May; 84(2):120-4. PubMed ID: 10323736
[TBL] [Abstract][Full Text] [Related]
16. Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.
Williams HJ; Sane SM
AJR Am J Roentgenol; 1976 Jun; 126(6):1223-8. PubMed ID: 179385
[TBL] [Abstract][Full Text] [Related]
17. Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?
Hennekam RC; Goldschmeding R
Eur J Hum Genet; 1998 Jan; 6(1):71-4. PubMed ID: 9781016
[TBL] [Abstract][Full Text] [Related]
18. [Cerebro-costo-mandibular syndrome. Three new cases (author's transl)].
Fauré C; Valleur D; Vital JL
Nouv Presse Med; 1978 Feb; 7(6):445-8. PubMed ID: 634782
[TBL] [Abstract][Full Text] [Related]
19. Cerebro-costo-mandibular syndrome. A new familial developmental disorder.
McNicholl B; Egan-Mitchell B; Murray JP; Doyle JF; Kennedy JD; Crome L
Arch Dis Child; 1970 Jun; 45(241):421-4. PubMed ID: 5427859
[TBL] [Abstract][Full Text] [Related]
20. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Lynch DC; Revil T; Schwartzentruber J; Bhoj EJ; Innes AM; Lamont RE; Lemire EG; Chodirker BN; Taylor JP; Zackai EH; McLeod DR; Kirk EP; Hoover-Fong J; Fleming L; Savarirayan R; ; Majewski J; Jerome-Majewska LA; Parboosingh JS; Bernier FP
Nat Commun; 2014 Jul; 5():4483. PubMed ID: 25047197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]