Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 10
Results: 49
Three patients resembling Teebi-Shaltout syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2570, doi. 10.1002/ajmg.a.36082
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Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2512, doi. 10.1002/ajmg.a.36127
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Collagenopathy with a phenotype resembling silver-russell syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2681, doi. 10.1002/ajmg.a.36093
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Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2559, doi. 10.1002/ajmg.a.36035
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De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2594, doi. 10.1002/ajmg.a.36097
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Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2564, doi. 10.1002/ajmg.a.36079
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Small study yields big results for whole genome sequencing in autism diagnosis: Geneticists optimistic that findings could aid with early identification of disorder.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. vii, doi. 10.1002/ajmg.a.36221
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Growth hormone, gender and face shape in prader-willi syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2453, doi. 10.1002/ajmg.a.36100
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Bone marrow transplantation in Schimke immuno-osseous dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2609, doi. 10.1002/ajmg.a.36111
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Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 ( COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36122
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Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2535, doi. 10.1002/ajmg.a.36133
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De novo 15q13.3 microdeletion with cryptogenic west syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2582, doi. 10.1002/ajmg.a.36085
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COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
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American Journal of Medical Genetics Part A: Volume 161A, Number 10, October 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. C1, doi. 10.1002/ajmg.a.36269
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Boston type craniosynostosis: Report of a second mutation in MSX2.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2626, doi. 10.1002/ajmg.a.36126
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5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2604, doi. 10.1002/ajmg.a.36108
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Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2614, doi. 10.1002/ajmg.a.36115
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Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2407, doi. 10.1002/ajmg.a.36096
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Timing of diagnosis of patients with pompe disease: Data from the pompe registry.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2431, doi. 10.1002/ajmg.a.36110
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An unexpected aortic valve in trisomy 21.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2670, doi. 10.1002/ajmg.a.36121
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A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2645, doi. 10.1002/ajmg.a.36132
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Prevalence of beckwith-wiedemann syndrome in North West of Italy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
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Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2672, doi. 10.1002/ajmg.a.36125
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A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2600, doi. 10.1002/ajmg.a.36107
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Risk and protective factors in the origin of conotruncal defects of heart-a population-based case-control study.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2444, doi. 10.1002/ajmg.a.36118
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Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2487, doi. 10.1002/ajmg.a.36084
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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2634, doi. 10.1002/ajmg.a.36129
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Victor McKusick and the history of medical genetics.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2678, doi. 10.1002/ajmg.a.36095
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Table of Contents, Volume 161A, Number 10, October 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. fm i, doi. 10.1002/ajmg.a.36270
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In this issue.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. x, doi. 10.1002/ajmg.a.36223
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Germline mosaicism does not explain the maternal age effect on trisomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2495, doi. 10.1002/ajmg.a.36120
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The 'old theme' of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with ('San Diego' variant) and without ragged metaphyses due to the same FGFR3 mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2675, doi. 10.1002/ajmg.a.36131
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'Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome' Am J Med Genet. 161:518-526, 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2685, doi. 10.1002/ajmg.a.36113
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Intellectual disability, unusual facial morphology and hand anomalies in sibs.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2401, doi. 10.1002/ajmg.a.36124
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Autism and epistemology IV: Does autism need a theory of mind?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2464, doi. 10.1002/ajmg.a.36135
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The phenotype range of achondrogenesis 1A.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2554, doi. 10.1002/ajmg.a.36106
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Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA 2, and FBXO 8 genes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2656, doi. 10.1002/ajmg.a.36146
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Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2666, doi. 10.1002/ajmg.a.36117
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Co-occurrence of 22q11 deletion syndrome and hdr syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2576, doi. 10.1002/ajmg.a.36083
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Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2519, doi. 10.1002/ajmg.a.36128
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Two somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2588, doi. 10.1002/ajmg.a.36094
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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
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Opitz award paper spotlights brain overgrowth syndromes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. vii, doi. 10.1002/ajmg.a.36222
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- Article
Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2641, doi. 10.1002/ajmg.a.36130
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Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2545, doi. 10.1002/ajmg.a.36141
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Maternal FMR1 premutation allele expansion and contraction in fraternal twins.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2620, doi. 10.1002/ajmg.a.36123
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A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2528, doi. 10.1002/ajmg.a.36134
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Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-lamy syndrome).
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2550, doi. 10.1002/ajmg.a.36105
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Silver-Russell syndrome due to paternal H19/ IGF2 hypomethylation in a twin girl born after in vitro fertilization.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2652, doi. 10.1002/ajmg.a.36145
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