Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 12
Results: 65
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2541, doi. 10.1002/ajmg.a.61010
- Publication type:
- Article
Blood Metabolites May Help Identify Children With Autism: A panel of blood metabolites may be able to identify some children at risk for autism spectrum disorder, which is a step towards developing a biomarker test.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2540, doi. 10.1002/ajmg.a.61009
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- Article
Thalidomide Teratogenic Effects Linked to Degradation of SALL4: After 60 years, researchers have now shed light on the mechanism underlying thalidomide's devastating teratogenic effects.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2538, doi. 10.1002/ajmg.a.61008
- Publication type:
- Article
Comparison of Aberrant Behavior Checklist profiles across Prader–Willi syndrome, Down syndrome, and autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2751, doi. 10.1002/ajmg.a.40665
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Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2901, doi. 10.1002/ajmg.a.40664
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Malan syndrome: Extension of genotype and phenotype spectrum.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2896, doi. 10.1002/ajmg.a.40663
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Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2907, doi. 10.1002/ajmg.a.40667
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Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2668, doi. 10.1002/ajmg.a.40666
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Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2554, doi. 10.1002/ajmg.a.60677
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Patients with SATB2‐associated syndrome exhibiting multiple odontomas.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2614, doi. 10.1002/ajmg.a.40670
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Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2695, doi. 10.1002/ajmg.a.40668
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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
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Schaaf‐Yang syndrome overview: Report of 78 individuals.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650
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Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2930, doi. 10.1002/ajmg.a.40658
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Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2733, doi. 10.1002/ajmg.a.40657
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Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2892, doi. 10.1002/ajmg.a.40652
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The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2704, doi. 10.1002/ajmg.a.40651
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Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2604, doi. 10.1002/ajmg.a.40659
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A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2595, doi. 10.1002/ajmg.a.40642
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Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2872, doi. 10.1002/ajmg.a.40640
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Growth curves for French people with Down syndrome from birth to 20 years of age.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2685, doi. 10.1002/ajmg.a.40639
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Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2887, doi. 10.1002/ajmg.a.40647
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Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2882, doi. 10.1002/ajmg.a.40643
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Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2877, doi. 10.1002/ajmg.a.40641
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Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2720, doi. 10.1002/ajmg.a.40646
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Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2911, doi. 10.1002/ajmg.a.40645
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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
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First reported adult patient with TARP syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2915, doi. 10.1002/ajmg.a.40638
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Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2677, doi. 10.1002/ajmg.a.40636
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Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2867, doi. 10.1002/ajmg.a.40635
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Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2862, doi. 10.1002/ajmg.a.40634
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An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2858, doi. 10.1002/ajmg.a.40633
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Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
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Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2934, doi. 10.1002/ajmg.a.40631
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Unmasking familial CPX by WES and identification of novel clinical signs.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2661, doi. 10.1002/ajmg.a.40630
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- Publication type:
- Article
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2768, doi. 10.1002/ajmg.a.40628
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- Publication type:
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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2850, doi. 10.1002/ajmg.a.40627
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A case of YY1‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2846, doi. 10.1002/ajmg.a.40626
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- Article
PRICKLE1‐related early onset epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2841, doi. 10.1002/ajmg.a.40625
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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
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Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2829, doi. 10.1002/ajmg.a.40533
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- Publication type:
- Article
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2824, doi. 10.1002/ajmg.a.40532
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- Publication type:
- Article
Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2798, doi. 10.1002/ajmg.a.40498
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- Publication type:
- Article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
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A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2791, doi. 10.1002/ajmg.a.40492
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Associated anomalies in cases with anorectal anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2646, doi. 10.1002/ajmg.a.40530
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Copy number variants in hypoplastic right heart syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2760, doi. 10.1002/ajmg.a.40527
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- Publication type:
- Article
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2787, doi. 10.1002/ajmg.a.40490
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- Publication type:
- Article
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2781, doi. 10.1002/ajmg.a.40488
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- Publication type:
- Article
Preliminary observations of mitochondrial dysfunction in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2587, doi. 10.1002/ajmg.a.40526
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- Article