Gropman A - Search Results

1

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders.

Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A. Wong LJ, et al. Among authors: gropman a. Am J Med Genet. 2002 Nov 15;113(1):59-64. doi: 10.1002/ajmg.10767. Am J Med Genet. 2002. PMID: 12400067

2

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Gropman A, et al. Am J Med Genet A. 2004 Feb 1;124A(4):377-82. doi: 10.1002/ajmg.a.20456. Am J Med Genet A. 2004. PMID: 14735585

3

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Among authors: gropman a. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

4

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. Wassif CA, et al. Among authors: gropman a. Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513191 Free PMC article. Clinical Trial.

5

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Among authors: gropman a. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.

6

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A. Uittenbogaard M, et al. Among authors: gropman a. Mol Genet Metab. 2018 May;124(1):71-81. doi: 10.1016/j.ymgme.2018.03.011. Epub 2018 Mar 27. Mol Genet Metab. 2018. PMID: 29602698 Free PMC article.

7

The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

Samango-Sprouse C, Lasutschinkow P, Powell S, Sadeghin T, Gropman A. Samango-Sprouse C, et al. Among authors: gropman a. Am J Med Genet A. 2019 Mar;179(3):423-428. doi: 10.1002/ajmg.a.61038. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637954

8

Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).

Tran SL, Samango-Sprouse CA, Sadeghin T, Powell S, Gropman AL. Tran SL, et al. Among authors: gropman al. Am J Med Genet A. 2019 Dec;179(12):2374-2381. doi: 10.1002/ajmg.a.61360. Epub 2019 Oct 2. Am J Med Genet A. 2019. PMID: 31577063

9

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

Samango-Sprouse CA, Tran SL, Lasutschinkow PC, Sadeghin T, Powell S, Mitchell FL, Gropman A. Samango-Sprouse CA, et al. Among authors: gropman a. Am J Med Genet A. 2020 Aug;182(8):1881-1889. doi: 10.1002/ajmg.a.61561. Epub 2020 Mar 27. Am J Med Genet A. 2020. PMID: 32220052

10

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.

Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A. Gropman A, et al. Mol Genet Metab Rep. 2020 May 28;24:100609. doi: 10.1016/j.ymgmr.2020.100609. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489883 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

272 results

Search Page