Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 10
Results: 50
An addendum to the review of jumping translocation by Reddy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2606, doi. 10.1002/ajmg.a.34200
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- Publication type:
- Article
Opitz bolstered research and careers, colleagues say.
- Published in:
- 2011
- Publication type:
- Other
Pregnancy outcome in carriers of Robertsonian translocations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2381, doi. 10.1002/ajmg.a.33941
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- Article
Two sisters resembling Gorlin-Chaudhry-Moss syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2552, doi. 10.1002/ajmg.a.34204
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- Publication type:
- Article
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2560, doi. 10.1002/ajmg.a.34215
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- Article
Axial spondylometaphyseal dysplasia: Additional reports.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2521, doi. 10.1002/ajmg.a.34192
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- Article
High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2484, doi. 10.1002/ajmg.a.34123
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- Article
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2446, doi. 10.1002/ajmg.a.34208
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- Article
Book review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2605, doi. 10.1002/ajmg.a.34174
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- Publication type:
- Article
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2589, doi. 10.1002/ajmg.a.34185
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- Publication type:
- Article
Deletion 2p15-16.1 syndrome: Case report and review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2473, doi. 10.1002/ajmg.a.33875
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- Article
The male phenotype in osteopathia striata congenita with cranial sclerosis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2397, doi. 10.1002/ajmg.a.34178
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- Publication type:
- Article
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2426, doi. 10.1002/ajmg.a.34189
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- Publication type:
- Article
Dr. John M. Opitz wins Allan Award.
- Published in:
- 2011
- Publication type:
- Other
Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array-CGH study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2597, doi. 10.1002/ajmg.a.34210
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- Publication type:
- Article
Bone density phenotypes in mice aneuploid for the Down syndrome critical region.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2436, doi. 10.1002/ajmg.a.34203
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- Publication type:
- Article
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2601, doi. 10.1002/ajmg.a.34214
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- Article
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2508, doi. 10.1002/ajmg.a.34180
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- Publication type:
- Article
Did the GJB2 35delG mutation originate in Iran?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2453, doi. 10.1002/ajmg.a.34225
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- Publication type:
- Article
Table of Contents, Volume 155, Number 10, October 2011.
- Published in:
- 2011
- Publication type:
- Other
Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2422, doi. 10.1002/ajmg.a.34191
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- Publication type:
- Article
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2566, doi. 10.1002/ajmg.a.34218
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- Article
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2512, doi. 10.1002/ajmg.a.34184
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- Publication type:
- Article
Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2459, doi. 10.1002/ajmg.a.34229
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- Publication type:
- Article
Pitfalls in the use of DGV for CNV interpretation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2593, doi. 10.1002/ajmg.a.34195
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- Publication type:
- Article
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2479, doi. 10.1002/ajmg.a.34023
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- Publication type:
- Article
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2386, doi. 10.1002/ajmg.a.34177
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- Publication type:
- Article
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2571, doi. 10.1002/ajmg.a.34220
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- Article
Fanconi-Bickel syndrome and fertility.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2607, doi. 10.1002/ajmg.a.34202
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- Publication type:
- Article
Having a son or daughter with Down syndrome: Perspectives from mothers and fathers.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2335, doi. 10.1002/ajmg.a.34293
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- Article
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2584, doi. 10.1002/ajmg.a.34224
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- Article
American Journal of Medical Genetics Part A: Volume 155, Number 10, October 2011.
- Published in:
- 2011
- Publication type:
- Other
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2516, doi. 10.1002/ajmg.a.34190
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- Article
Self-perceptions from people with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2360, doi. 10.1002/ajmg.a.34235
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- Publication type:
- Article
Mosaic trisomy 17: Variable clinical and cytogenetic presentation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2489, doi. 10.1002/ajmg.a.34172
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- Publication type:
- Article
Having a brother or sister with Down syndrome: Perspectives from siblings.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2348, doi. 10.1002/ajmg.a.34228
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- Publication type:
- Article
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2529, doi. 10.1002/ajmg.a.34194
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- Publication type:
- Article
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2496, doi. 10.1002/ajmg.a.34176
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- Publication type:
- Article
Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2416, doi. 10.1002/ajmg.a.34187
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- Publication type:
- Article
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2538, doi. 10.1002/ajmg.a.34198
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- Publication type:
- Article
Opitz award paper describes Marshall-Smith syndrome.
- Published in:
- 2011
- Publication type:
- Other
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2543, doi. 10.1002/ajmg.a.34201
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- Publication type:
- Article
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2578, doi. 10.1002/ajmg.a.34223
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- Publication type:
- Article
X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2370, doi. 10.1002/ajmg.a.33913
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- Publication type:
- Article
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2465, doi. 10.1002/ajmg.a.34205
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- Publication type:
- Article
Ramos-Arroyo syndrome: Confirmation of an entity.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2556, doi. 10.1002/ajmg.a.34209
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- Publication type:
- Article
Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2409, doi. 10.1002/ajmg.a.34186
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- Publication type:
- Article
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2534, doi. 10.1002/ajmg.a.34197
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- Publication type:
- Article
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2501, doi. 10.1002/ajmg.a.34179
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- Publication type:
- Article
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2469, doi. 10.1002/ajmg.a.33829
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- Publication type:
- Article