Detalhe da pesquisa
1.
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
2.
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Osteoporos Int
; 35(3): 439-449, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982856
3.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(3): 431-438, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982857
4.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
5.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
6.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
7.
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 133(1): 113-121, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814268
8.
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Am J Med Genet A
; 185(5): 1515-1518, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559401
9.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
10.
Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases.
J Clin Densitom
; 23(1): 1-20, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685420
11.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Genet Med
; 21(10): 2311-2318, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918359
12.
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(5): 933-934, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498158
13.
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Clin Genet
; 94(6): 502-511, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152014
14.
Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta.
J Pediatr Orthop
; 38(6): 331-336, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27379783
15.
Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.
J Pediatr Orthop
; 38(9): 484-489, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27662385
16.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 122(1-2): 4-17, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888853
17.
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Am J Med Genet A
; 173(9): 2428-2434, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28816422
18.
Low bone mineral density is a common feature of Zellweger spectrum disorders.
Mol Genet Metab
; 117(1): 33-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26643206
19.
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Mol Genet Metab
; 117(3): 313-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26750748
20.
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.
Cytogenet Genome Res
; 147(1): 31-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26571231