Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 11
Results: 46
Table of Contents, Volume 176A, Number 11, November 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2227, doi. 10.1002/ajmg.a.61023
- Publication type:
- Article
Cover Image, Volume 176A, Number 11, November 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. i, doi. 10.1002/ajmg.a.61022
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2236, doi. 10.1002/ajmg.a.60673
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- Article
New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior‐posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2234, doi. 10.1002/ajmg.a.60672
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- Article
Opitz Award Winner Defines Down Syndrome in Diverse Populations: Research will help clinicians identify patients with Down syndrome in non‐European populations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2233, doi. 10.1002/ajmg.a.60671
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- Article
Multicenter study of mortality in achondroplasia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2359, doi. 10.1002/ajmg.a.40528
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- Article
The effect of steroid treatment on weight in nonambulatory males with Duchenne muscular dystrophy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2350, doi. 10.1002/ajmg.a.40517
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Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2487, doi. 10.1002/ajmg.a.40516
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- Article
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2509, doi. 10.1002/ajmg.a.40515
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- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Article
Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis‐II nondisjunction at younger age and without any detectable recombination error.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2342, doi. 10.1002/ajmg.a.40511
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- Article
Metabolic responses to walking in children with Prader‐Willi syndrome on growth hormone replacement therapy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2513, doi. 10.1002/ajmg.a.40509
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- Article
A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2494, doi. 10.1002/ajmg.a.40508
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- Article
Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14).
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2331, doi. 10.1002/ajmg.a.40507
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- Article
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2325, doi. 10.1002/ajmg.a.40505
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- Article
Intrafamilial clinical variability in four families with incontinentia pigmenti.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2318, doi. 10.1002/ajmg.a.40497
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- Article
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2479, doi. 10.1002/ajmg.a.40496
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- Article
Dietary intake in youth with prader‐willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2309, doi. 10.1002/ajmg.a.40491
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- Article
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2460, doi. 10.1002/ajmg.a.40489
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- Article
Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2301, doi. 10.1002/ajmg.a.40487
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- Article
The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2456, doi. 10.1002/ajmg.a.40486
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Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2451, doi. 10.1002/ajmg.a.40485
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Warsaw breakage syndrome: Further clinical and genetic delineation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482
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The characteristics of temper outbursts in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2292, doi. 10.1002/ajmg.a.40480
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- Article
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2250, doi. 10.1002/ajmg.a.40471
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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2395, doi. 10.1002/ajmg.a.40478
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Behavioral and psychological features in girls and women with triple‐X syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2284, doi. 10.1002/ajmg.a.40477
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Copy number variations in a population with prune belly syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2276, doi. 10.1002/ajmg.a.40476
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472
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Phenotypic and molecular insights into PQBP1‐related intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479
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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2435, doi. 10.1002/ajmg.a.40470
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Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2389, doi. 10.1002/ajmg.a.40469
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A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2382, doi. 10.1002/ajmg.a.40431
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- Article
LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2430, doi. 10.1002/ajmg.a.40430
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A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2425, doi. 10.1002/ajmg.a.40429
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- Article
Congenital lumbar hernia–A feature of diabetic embryopathy?
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2243, doi. 10.1002/ajmg.a.40381
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Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2237, doi. 10.1002/ajmg.a.40377
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- Article
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2470, doi. 10.1002/ajmg.a.40357
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Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2466, doi. 10.1002/ajmg.a.40354
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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2523, doi. 10.1002/ajmg.a.40349
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Publication schedule for 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2232, doi. 10.1002/ajmg.a.38452
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- Article
Heterozygous WNT1 variant causing a variable bone phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2419, doi. 10.1002/ajmg.a.40347
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- Article
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2522, doi. 10.1002/ajmg.a.38846
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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2517, doi. 10.1002/ajmg.a.38631
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Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2365, doi. 10.1002/ajmg.a.38555
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Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2375, doi. 10.1002/ajmg.a.40348
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- Article