Detalles de la búsqueda
1.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30554721
2.
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Neurogenetics
; 22(1): 53-64, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33415588
3.
Pulmonary immune cell transcriptome changes in double-hit model of BPD induced by chorioamnionitis and postnatal hyperoxia.
Pediatr Res
; 90(3): 565-575, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33446917
4.
Medically actionable comorbidities in adults with Costello syndrome.
Am J Med Genet A
; 182(1): 130-136, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31680412
5.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25865493
6.
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Am J Med Genet A
; 173(5): 1309-1318, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28371260
7.
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
Am J Med Genet A
; 173(5): 1294-1300, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28374929
8.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Am J Med Genet A
; 170(3): 559-64, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26572961
9.
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Am J Med Genet A
; 170(9): 2237-47, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27264673
10.
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Am J Med Genet A
; 170(12): 3197-3206, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27589201
11.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
BMC Urol
; 16(1): 62, 2016 Oct 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-27769252
12.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Am J Med Genet A
; 167A(2): 271-81, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25394726
13.
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Am J Med Genet A
; 167A(9): 2085-97, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25914166
14.
A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: a Children's Oncology Group Phase I Consortium report.
Pediatr Blood Cancer
; 62(5): 751-8, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25728527
15.
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Am J Med Genet A
; 164A(9): 2240-9, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24942156
16.
Plasma membrane Ca2+-ATPase 4 in murine epididymis: secretion of splice variants in the luminal fluid and a role in sperm maturation.
Biol Reprod
; 89(1): 6, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23699388
17.
Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
Genet Med
; 15(7): 554-7, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23429430
18.
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.
Am J Med Genet A
; 161A(9): 2258-65, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23918324
19.
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Am J Med Genet A
; 161A(10): 2420-30, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23918763
20.
The Intestinal Tract Brush Border in Young Children Uniformly Expresses Guanylate Cyclase C.
Appl Immunohistochem Mol Morphol
; 31(3): 154-162, 2023 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36735491