Detalhe da pesquisa
1.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
2.
Oral and mandibular manifestations in the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 220-225, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192626
3.
Ehlers-Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO.
Am J Med Genet C Semin Med Genet
; 187(4): 413-415, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793630
4.
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.
Ann Vasc Surg
; 29(3): 595.e11-4, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597651
5.
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
J Allergy Clin Immunol
; 132(2): 378-86, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23608731
6.
Health Supervision for Children and Adolescents With Marfan Syndrome.
Pediatrics
; 151(4)2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938616
7.
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Orphanet J Rare Dis
; 18(1): 104, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143135
8.
The role of functional disability and social support in psychological outcomes for individuals with pediatric hypermobile ehlers-danlos syndrome.
J Child Health Care
; : 13674935221143822, 2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484120
9.
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome.
J Pediatr
; 158(5): 826-830.e1, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21193204
10.
Variable expression of neurofibromatosis 1 in monozygotic twins.
Am J Med Genet A
; 155A(3): 478-85, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21337692
11.
Joint hypermobility syndrome: A common clinical disorder associated with migraine in women.
Cephalalgia
; 31(5): 603-13, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278238
12.
Symptomatic joint hypermobility.
Best Pract Res Clin Rheumatol
; 34(3): 101508, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249022
13.
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome.
J Child Health Care
; 24(3): 444-457, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31370685
14.
Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy.
J Pediatr
; 155(4): 510-5, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608200
15.
Joint hypermobility and headache.
Headache
; 54(8): 1412-3, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196367
16.
Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders.
Med Clin North Am
; 103(6): 1021-1033, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31582002
17.
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).
Am J Med Genet A
; 149A(11): 2368-70, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842204
18.
Prenatal diagnosis: beyond decisions about termination.
J Pediatr
; 153(5): 728; author reply 728-9, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18940367
19.
Health supervision for children with Marfan syndrome.
Pediatrics
; 132(4): e1059-72, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24081994
20.
Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
Otolaryngol Head Neck Surg
; 148(6): 1007-16, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23525850