Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 3
Results: 51
Table of Contents, Volume 164A, Number 3, March 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. fm i, doi. 10.1002/ajmg.a.36523
- Publication type:
- Article
Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. ix, doi. 10.1002/ajmg.a.36460
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- Article
Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers-Danlos syndrome: Hypermobile type and joint hypermobility syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 591, doi. 10.1002/ajmg.a.36402
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- Article
Low-level mesodermal somatic mutation mosaicism: Late-onset craniofacial and cervical spinal hyperostoses.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 741, doi. 10.1002/ajmg.a.36310
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- Article
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 620, doi. 10.1002/ajmg.a.36321
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- Article
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 685, doi. 10.1002/ajmg.a.36361
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- Article
SNAI2 mutation causes human piebaldism.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 855, doi. 10.1002/ajmg.a.36332
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- Article
Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 824, doi. 10.1002/ajmg.a.36347
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- Article
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 731, doi. 10.1002/ajmg.a.36314
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- Article
Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 841, doi. 10.1002/ajmg.a.36354
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- Article
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 634, doi. 10.1002/ajmg.a.36325
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- Article
Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 834, doi. 10.1002/ajmg.a.36336
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- Article
Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 837, doi. 10.1002/ajmg.a.36343
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- Article
Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 610, doi. 10.1002/ajmg.a.36318
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- Article
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 579, doi. 10.1002/ajmg.a.36313
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- Article
Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 764, doi. 10.1002/ajmg.a.36329
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- Article
American Journal of Medical Genetics Part A: Volume 164A, Number 3, March 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. C1, doi. 10.1002/ajmg.a.36522
- Publication type:
- Article
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 ( AGS6).
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 815, doi. 10.1002/ajmg.a.36360
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- Article
In this issue.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. xii, doi. 10.1002/ajmg.a.36462
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- Article
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 806, doi. 10.1002/ajmg.a.36358
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- Article
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 774, doi. 10.1002/ajmg.a.36335
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- Article
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 666, doi. 10.1002/ajmg.a.36346
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- Article
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 801, doi. 10.1002/ajmg.a.36357
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- Article
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 769, doi. 10.1002/ajmg.a.36331
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- Article
Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 639, doi. 10.1002/ajmg.a.36330
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- Article
Focal dermal hypoplasia without focal dermal hypoplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 778, doi. 10.1002/ajmg.a.36341
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- Article
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 563, doi. 10.1002/ajmg.a.36312
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Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 760, doi. 10.1002/ajmg.a.36327
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- Article
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 748, doi. 10.1002/ajmg.a.36322
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- Article
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 828, doi. 10.1002/ajmg.a.36363
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- Article
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 782, doi. 10.1002/ajmg.a.36345
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- Article
Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 796, doi. 10.1002/ajmg.a.36356
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- Article
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 648, doi. 10.1002/ajmg.a.36323
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- Article
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 588, doi. 10.1002/ajmg.a.36437
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- Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
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- Article
FDA-approved Next-Generation sequencing system could expand clinical genomic testing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. x, doi. 10.1002/ajmg.a.36461
- Publication type:
- Article
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 676, doi. 10.1002/ajmg.a.36340
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- Article
Hereditary Hearing Loss and Its Syndromes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 852, doi. 10.1002/ajmg.a.36311
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- Publication type:
- Article
Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 661, doi. 10.1002/ajmg.a.36338
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Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 820, doi. 10.1002/ajmg.a.36362
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- Article
Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 655, doi. 10.1002/ajmg.a.36333
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- Article
Report of a patient with Temple-Baraitser syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 848, doi. 10.1002/ajmg.a.36344
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- Article
Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 671, doi. 10.1002/ajmg.a.36355
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- Article
Amyoplasia revisited.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 700, doi. 10.1002/ajmg.a.36395
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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 753, doi. 10.1002/ajmg.a.36326
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- Article
Stillbirth: The heart of the matter.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 691, doi. 10.1002/ajmg.a.36366
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Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 597, doi. 10.1002/ajmg.a.36308
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- Article
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
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- Article
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 736, doi. 10.1002/ajmg.a.36319
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- Article
Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 810, doi. 10.1002/ajmg.a.36359
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- Article