Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
3.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
4.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
5.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
6.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949664
7.
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Am J Med Genet A
; 194(2): 211-217, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795572
8.
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Am J Med Genet A
; 194(3): e63422, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876363
9.
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Am J Med Genet A
; 194(5): e63539, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204290
10.
Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in IQ.
Am J Med Genet A
; 194(4): e63511, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126162
11.
Give these 'living composite' objects a squeeze and watch them glow.
Nature
; 623(7985): 11, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875687
12.
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature
; 558(7711): 540-546, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899452
13.
Polymethyl methacrylate augmentation and proximal junctional kyphosis in adult spinal deformity patients.
Eur Spine J
; 33(2): 599-609, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812256
14.
Three-column osteotomy in long constructs has lower rates of proximal junctional kyphosis and better restoration of lumbar lordosis than anterior column realignment.
Eur Spine J
; 33(2): 590-598, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224408
15.
Restoring the ideal Roussouly sagittal alignment in Lenke 5 adolescent idiopathic scoliosis patients: a method for decreasing the risk of proximal junctional kyphosis.
Eur Spine J
; 33(2): 695-705, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37874394
16.
CSF1R-dependent macrophages control postnatal somatic growth and organ maturation.
PLoS Genet
; 17(6): e1009605, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081701
17.
Morphological analysis of isolated hemivertebra: radiographic manifestations related to the severity of congenital scoliosis.
BMC Musculoskelet Disord
; 25(1): 112, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317143
18.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
Proc Natl Acad Sci U S A
; 118(39)2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548398
19.
Sternal cleft and pectus excavatum: an overlooked congenital association?
Pediatr Surg Int
; 40(1): 105, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602580
20.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087