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Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1106, doi. 10.1002/ajmg.a.33826
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- Publication type:
- Article
Mental retardation: Is naming the real issue?
- Published in:
- 2011
- By:
- Publication type:
- Editorial
6q27 subtelomeric deletions: Is there a specific phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1213, doi. 10.1002/ajmg.a.33877
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- Publication type:
- Article
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1170, doi. 10.1002/ajmg.a.33972
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- Publication type:
- Article
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1102, doi. 10.1002/ajmg.a.33895
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- Publication type:
- Article
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 988, doi. 10.1002/ajmg.a.33960
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- Publication type:
- Article
WNT10A and isolated hypodontia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1119, doi. 10.1002/ajmg.a.33840
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- Publication type:
- Article
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1140, doi. 10.1002/ajmg.a.33880
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- Publication type:
- Article
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1050, doi. 10.1002/ajmg.a.33965
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- Publication type:
- Article
Homozygosity mapping identifies the Crumbs homologue 1 ( Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1001, doi. 10.1002/ajmg.a.33862
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- Publication type:
- Article
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1109, doi. 10.1002/ajmg.a.33833
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- Publication type:
- Article
der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1157, doi. 10.1002/ajmg.a.33953
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- Publication type:
- Article
PTPN11 gene mutation associated with abnormal gonadal determination.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1136, doi. 10.1002/ajmg.a.33873
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- Publication type:
- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
Wilms tumor in a patient with 22q11.2 microdeletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1162, doi. 10.1002/ajmg.a.33957
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- Publication type:
- Article
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1152, doi. 10.1002/ajmg.a.33942
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- Publication type:
- Article
The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1173, doi. 10.1002/ajmg.a.33975
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- Publication type:
- Article
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1123, doi. 10.1002/ajmg.a.33859
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- Publication type:
- Article
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1192, doi. 10.1002/ajmg.a.33986
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- Publication type:
- Article
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.
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- 2011
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- Publication type:
- Other
Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1007, doi. 10.1002/ajmg.a.33883
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- Publication type:
- Article
Late onset Pompe disease revealed by newborn screening.
- Published in:
- 2011
- Publication type:
- Other
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1060, doi. 10.1002/ajmg.a.33978
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- Publication type:
- Article
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1165, doi. 10.1002/ajmg.a.33968
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- Publication type:
- Article
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1202, doi. 10.1002/ajmg.a.33209
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- Publication type:
- Article
Risk factors for aortic valve disease in bicuspid aortic valve: A family-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1015, doi. 10.1002/ajmg.a.33974
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- Publication type:
- Article
Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues.
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- 2011
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- Publication type:
- Editorial
Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1033, doi. 10.1002/ajmg.a.33928
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- Publication type:
- Article
Costello syndrome community mourns New Zealand pediatrician.
- Published in:
- 2011
- Publication type:
- Other
Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1189, doi. 10.1002/ajmg.a.33967
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- Publication type:
- Article
Table of Contents, Volume 155, Number 5, May 2011.
- Published in:
- 2011
- Publication type:
- Other
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938
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- Publication type:
- Article
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1178, doi. 10.1002/ajmg.a.33813
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- Publication type:
- Article
Nosology and classification of genetic skeletal disorders: 2010 revision.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 943, doi. 10.1002/ajmg.a.33909
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- Publication type:
- Article
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1196, doi. 10.1002/ajmg.a.34002
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- Publication type:
- Article
Implementing the elements of morphology in the American Journal of Medical Genetics.
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- 2011
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- Publication type:
- Editorial
Invited comment on terminology.
- Published in:
- 2011
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- Publication type:
- Editorial
Corrigendum to 'Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome' Am J Med Genet 152A: 1661-1669.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1215, doi. 10.1002/ajmg.a.33680
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- Publication type:
- Article
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1129, doi. 10.1002/ajmg.a.33868
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- Publication type:
- Article
Nutritional phases in Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1040, doi. 10.1002/ajmg.a.33951
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- Publication type:
- Article
Vestibular dysfunction in DFNB1 deafness.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828
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- Publication type:
- Article
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1096, doi. 10.1002/ajmg.a.33962
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- Publication type:
- Article
Left ventricular noncompaction in Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1115, doi. 10.1002/ajmg.a.33838
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- Publication type:
- Article
A comprehensive description of the severity groups in Cockayne syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1081, doi. 10.1002/ajmg.a.33933
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- Publication type:
- Article
Short-term follow-up of a Brazilian patient with Cantú syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1184, doi. 10.1002/ajmg.a.33904
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- Publication type:
- Article
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1066, doi. 10.1002/ajmg.a.33991
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- Publication type:
- Article
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1021, doi. 10.1002/ajmg.a.33892
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 5, May 2011.
- Published in:
- 2011
- Publication type:
- Other
Book review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1212, doi. 10.1002/ajmg.a.33973
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- Publication type:
- Article
Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1073, doi. 10.1002/ajmg.a.34016
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- Publication type:
- Article