Detalhe da pesquisa
1.
Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.
Genet Med
; 25(7): 100845, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061874
2.
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Am J Med Genet A
; 191(5): 1261-1272, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797513
3.
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Genet Med
; 23(8): 1498-1505, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006999
4.
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Am J Med Genet A
; 185(4): 1168-1174, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496070
5.
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Am J Med Genet A
; 179(3): 410-416, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672094
6.
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.
Am J Obstet Gynecol
; 219(6): 545-562, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048634
7.
Best practices in peri-operative management of patients with skeletal dysplasias.
Am J Med Genet A
; 173(10): 2584-2595, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763154
8.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777491
9.
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.
Qual Life Res
; 26(5): 1337-1348, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866314
10.
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Genome Res
; 21(10): 1720-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890680
11.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS Genet
; 6(6): e1000991, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20577567
12.
The characterization of twenty sequenced human genomes.
PLoS Genet
; 6(9): e1001111, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838461
13.
Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older.
JAMA Netw Open
; 6(7): e2326320, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505496
14.
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
J Neurosurg Pediatr
; 32(6): 649-656, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37877951
15.
Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.
Laryngoscope
; 132(8): 1548-1554, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708868
16.
Medicare Beneficiaries With Self-Reported Functional Hearing Difficulty Have Unmet Health Care Needs.
Health Aff (Millwood)
; 40(5): 786-794, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33939509
17.
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
J Neurosurg Pediatr
; : 1-7, 2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087800
18.
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Orphanet J Rare Dis
; 16(1): 522, 2021 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949201
19.
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Autism Res
; 13(7): 1227-1238, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567802
20.
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
Am J Med Genet A
; 149A(4): 669-80, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19253379