Detalhe da pesquisa
1.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
2.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
Blood
; 139(21): 3111-3126, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213692
3.
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.
Am J Med Genet A
; : e63629, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38647386
4.
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
Neuropediatrics
; 55(3): 156-165, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365196
5.
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Am J Med Genet A
; 191(4): 1119-1127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36630262
6.
Evaluation of polysomnography findings in children with genetic skeletal disorders.
J Sleep Res
; 32(5): e13914, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37128177
7.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Hum Mutat
; 43(12): 2116-2129, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150098
8.
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Am J Med Genet A
; 188(8): 2367-2375, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535755
9.
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Eur J Pediatr
; 181(2): 735-743, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562164
10.
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Cleft Palate Craniofac J
; 59(9): 1114-1124, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410171
11.
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
J Hum Genet
; 66(6): 585-596, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288834
12.
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
Am J Med Genet A
; 185(11): 3427-3432, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34403180
13.
A rare cause of syndromic short stature: 3M syndrome in three families.
Am J Med Genet A
; 185(2): 461-468, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258289
14.
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
Am J Med Genet A
; 185(10): 3104-3110, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089299
15.
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Am J Med Genet A
; 185(6): 1888-1896, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749994
16.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Pediatr Diabetes
; 21(7): 1176-1182, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738013
17.
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Neuropediatrics
; 51(6): 445-449, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663882
18.
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Fetal Pediatr Pathol
; 39(2): 163-171, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303091
19.
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Am J Med Genet A
; 179(7): 1157-1172, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30980518
20.
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
J Hum Genet
; 63(9): 1003-1007, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884795