Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 5
Results: 45
Corrigendum: Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1647, doi. 10.1002/ajmg.a.62683
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- Article
Further delineation of SET‐related intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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Caregivers evaluate independence in individuals with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1526, doi. 10.1002/ajmg.a.62680
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Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1376, doi. 10.1002/ajmg.a.62672
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Strengths and challenging behaviors in children and adolescents with Prader‐Willi syndrome: Two sides to the coin.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1488, doi. 10.1002/ajmg.a.62671
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Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1482, doi. 10.1002/ajmg.a.62670
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Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1623, doi. 10.1002/ajmg.a.62679
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Ear lobe creases: A novel phenotypic feature in KBG syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1618, doi. 10.1002/ajmg.a.62675
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Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1583, doi. 10.1002/ajmg.a.62674
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Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1515, doi. 10.1002/ajmg.a.62678
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Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1497, doi. 10.1002/ajmg.a.62677
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Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676
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Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1578, doi. 10.1002/ajmg.a.62669
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Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1435, doi. 10.1002/ajmg.a.62658
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Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1426, doi. 10.1002/ajmg.a.62657
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Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1420, doi. 10.1002/ajmg.a.62656
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Whole exome sequencing studies in epilepsy: A deep analysis of the published literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1407, doi. 10.1002/ajmg.a.62655
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Werner syndrome in a Lebanese family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1630, doi. 10.1002/ajmg.a.62654
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A SOX3 duplication and lumbosacral spina bifida in three generations.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1572, doi. 10.1002/ajmg.a.62668
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A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu‐Boycott‐Innes syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1568, doi. 10.1002/ajmg.a.62667
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Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1476, doi. 10.1002/ajmg.a.62666
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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1562, doi. 10.1002/ajmg.a.62665
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Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1639, doi. 10.1002/ajmg.a.62664
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Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1464, doi. 10.1002/ajmg.a.62663
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Neuropsychiatric features of Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1457, doi. 10.1002/ajmg.a.62662
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Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1448, doi. 10.1002/ajmg.a.62661
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SHORT syndrome in an adult Brazilian patient.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1635, doi. 10.1002/ajmg.a.62660
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Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1443, doi. 10.1002/ajmg.a.62659
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Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1556, doi. 10.1002/ajmg.a.62653
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Near complete deletion of KMT2D in a college student.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1550, doi. 10.1002/ajmg.a.62652
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The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1545, doi. 10.1002/ajmg.a.62651
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The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1368, doi. 10.1002/ajmg.a.62650
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A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1612, doi. 10.1002/ajmg.a.62649
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Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1396, doi. 10.1002/ajmg.a.62648
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Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1538, doi. 10.1002/ajmg.a.62647
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The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1626, doi. 10.1002/ajmg.a.62646
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1384, doi. 10.1002/ajmg.a.62645
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Wide Range of Outcomes with Different Types of Genetic Testing in Epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1350, doi. 10.1002/ajmg.a.62291
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- Article
Table of Contents, Volume 188A, Number 5, May 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1343, doi. 10.1002/ajmg.a.62289
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- Article
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1355, doi. 10.1002/ajmg.a.62644
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1353, doi. 10.1002/ajmg.a.62293
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- Article
ACMG Issues Guidance on Protecting Genomic Data.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1351, doi. 10.1002/ajmg.a.62292
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- Article
Publication schedule for 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1349, doi. 10.1002/ajmg.a.62290
- Publication type:
- Article
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1607, doi. 10.1002/ajmg.a.62643
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Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
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- Article