Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 7
Results: 44
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1942, doi. 10.1002/ajmg.a.37660
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- Article
Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1924, doi. 10.1002/ajmg.a.37662
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- Article
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1858, doi. 10.1002/ajmg.a.37664
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- Article
A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1881, doi. 10.1002/ajmg.a.37665
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- Article
Is 1p36 deletion associated with anterior body wall defects?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1889, doi. 10.1002/ajmg.a.37666
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- Article
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1895, doi. 10.1002/ajmg.a.37667
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- Article
Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1786, doi. 10.1002/ajmg.a.37668
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- Article
Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1947, doi. 10.1002/ajmg.a.37733
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- Article
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3).
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1918, doi. 10.1002/ajmg.a.37680
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- Article
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1813, doi. 10.1002/ajmg.a.37682
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- Article
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1934, doi. 10.1002/ajmg.a.37683
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- Article
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1820, doi. 10.1002/ajmg.a.37684
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- Article
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1843, doi. 10.1002/ajmg.a.37685
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- Publication type:
- Article
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1912, doi. 10.1002/ajmg.a.37686
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- Article
Death from supine asphyxia in late onset pompe disease: Two patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1928, doi. 10.1002/ajmg.a.37687
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- Article
A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1930, doi. 10.1002/ajmg.a.37689
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- Article
Autism variants can influence behavior, communication traits in general population.
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- 2016
- Publication type:
- Other
Online platform to embrace wide community of people affected by genetic diseases.
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- 2016
- Publication type:
- Other
In this issue.
- Published in:
- 2016
- Publication type:
- Other
Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1832, doi. 10.1002/ajmg.a.37638
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- Article
The society for craniofacial genetics and developmental biology 38th annual meeting.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1732, doi. 10.1002/ajmg.a.37651
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- Article
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1863, doi. 10.1002/ajmg.a.37653
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- Article
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1868, doi. 10.1002/ajmg.a.37654
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- Article
Respiratory system involvement in Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1849, doi. 10.1002/ajmg.a.37655
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- Article
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1763, doi. 10.1002/ajmg.a.37656
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- Article
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1874, doi. 10.1002/ajmg.a.37657
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- Article
Three cases of Troyer syndrome in two families of Filipino descent.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1780, doi. 10.1002/ajmg.a.37658
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- Article
In memory of Murray Feingold (1930-2015).
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1727, doi. 10.1002/ajmg.a.37729
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- Article
Rapid clinical deterioration in an individual with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1899, doi. 10.1002/ajmg.a.37674
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- Article
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1665, doi. 10.1002/ajmg.a.37600
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- Publication type:
- Article
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1791, doi. 10.1002/ajmg.a.37670
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- Article
Trisomy 13 and gallbladder agenesis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1945, doi. 10.1002/ajmg.a.37671
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- Article
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1754, doi. 10.1002/ajmg.a.37672
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- Publication type:
- Article
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1799, doi. 10.1002/ajmg.a.37673
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- Article
Cover Image, Volume 170A, Number 7, July 2016.
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- 2016
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- Publication type:
- Other
Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1903, doi. 10.1002/ajmg.a.37675
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- Article
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1908, doi. 10.1002/ajmg.a.37676
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- Article
Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1806, doi. 10.1002/ajmg.a.37677
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- Article
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1938, doi. 10.1002/ajmg.a.37679
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- Article
Table of Contents, Volume 170A, Number 7, July 2016.
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- 2016
- Publication type:
- Other
Publication schedule for 2016.
- Published in:
- 2016
- Publication type:
- Other
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1826, doi. 10.1002/ajmg.a.37690
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- Article
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1884, doi. 10.1002/ajmg.a.37691
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- Publication type:
- Article
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
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- Publication type:
- Article