Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 7
Results: 54
LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1599, doi. 10.1002/ajmg.a.35971
- By:
- Publication type:
- Article
Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1666, doi. 10.1002/ajmg.a.35982
- By:
- Publication type:
- Article
Severe obstructive sleep apnea in loeys-dietz syndrome successfully treated using continuous positive airway pressure.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1733, doi. 10.1002/ajmg.a.35953
- By:
- Publication type:
- Article
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35964
- By:
- Publication type:
- Article
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1690, doi. 10.1002/ajmg.a.35935
- By:
- Publication type:
- Article
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1779, doi. 10.1002/ajmg.a.35975
- By:
- Publication type:
- Article
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1722, doi. 10.1002/ajmg.a.35946
- By:
- Publication type:
- Article
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1806, doi. 10.1002/ajmg.a.35986
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 161A, Number 7, July 2013.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. C1, doi. 10.1002/ajmg.a.36090
- Publication type:
- Article
Chimerism in monochorionic dizygotic twins: Case study and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1817, doi. 10.1002/ajmg.a.35957
- By:
- Publication type:
- Article
Familial trisomy 6p in mother and daughter.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1675, doi. 10.1002/ajmg.a.35928
- By:
- Publication type:
- Article
Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1768, doi. 10.1002/ajmg.a.35968
- By:
- Publication type:
- Article
Expanding the phenotype associated with missense mutations of the ARX gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
- By:
- Publication type:
- Article
Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1695, doi. 10.1002/ajmg.a.35939
- By:
- Publication type:
- Article
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1638, doi. 10.1002/ajmg.a.35979
- By:
- Publication type:
- Article
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1797, doi. 10.1002/ajmg.a.36054
- By:
- Publication type:
- Article
Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/ NPHP2 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1792, doi. 10.1002/ajmg.a.36036
- By:
- Publication type:
- Article
ACMG SUGGESTS BROADER APPLICATION FOR NONINVASIVE PRENATAL SCREENING TESTS: NIPS tests shouldn't be limited to high-risk pregnancies.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. vii, doi. 10.1002/ajmg.a.36087
- Publication type:
- Article
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1682, doi. 10.1002/ajmg.a.35930
- By:
- Publication type:
- Article
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35970
- By:
- Publication type:
- Article
Circadian abnormalities in mouse models of smith-magenis syndrome: Evidence for involvement of RAI1.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1561, doi. 10.1002/ajmg.a.35941
- By:
- Publication type:
- Article
'If it helps ...' the use of microarray technology in prenatal testing: Patient and partners reflections.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1619, doi. 10.1002/ajmg.a.35981
- By:
- Publication type:
- Article
First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1773, doi. 10.1002/ajmg.a.35974
- By:
- Publication type:
- Article
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1714, doi. 10.1002/ajmg.a.35945
- By:
- Publication type:
- Article
Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35956
- By:
- Publication type:
- Article
Two is better than one: A case of homozygous myotonic dystrophy type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1763, doi. 10.1002/ajmg.a.35967
- By:
- Publication type:
- Article
Growth hormone receptor ( GHR) gene polymorphism and prader-willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1647, doi. 10.1002/ajmg.a.35980
- By:
- Publication type:
- Article
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1726, doi. 10.1002/ajmg.a.35951
- By:
- Publication type:
- Article
The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1628, doi. 10.1002/ajmg.a.35973
- By:
- Publication type:
- Article
Progressive extreme heterotopic calcification.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1706, doi. 10.1002/ajmg.a.35944
- By:
- Publication type:
- Article
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1786, doi. 10.1002/ajmg.a.35984
- By:
- Publication type:
- Article
Descriptive epidemiology of idiopathic clubfoot.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1569, doi. 10.1002/ajmg.a.35955
- By:
- Publication type:
- Article
Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1759, doi. 10.1002/ajmg.a.35966
- By:
- Publication type:
- Article
The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1654, doi. 10.1002/ajmg.a.36001
- By:
- Publication type:
- Article
6p25 microdeletion: White matter abnormalities in an adult patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1686, doi. 10.1002/ajmg.a.35937
- By:
- Publication type:
- Article
Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1825, doi. 10.1002/ajmg.a.35988
- By:
- Publication type:
- Article
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1585, doi. 10.1002/ajmg.a.35959
- By:
- Publication type:
- Article
IN THIS ISSUE.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. x, doi. 10.1002/ajmg.a.36089
- Publication type:
- Article
Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1718, doi. 10.1002/ajmg.a.35950
- By:
- Publication type:
- Article
Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1531, doi. 10.1002/ajmg.a.35990
- By:
- Publication type:
- Article
Delineation of a region responsible for panhypopituitarism in 20p11.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1547, doi. 10.1002/ajmg.a.35921
- By:
- Publication type:
- Article
Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35972
- By:
- Publication type:
- Article
De novo trisomy 12p in twin girls with different levels of mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1702, doi. 10.1002/ajmg.a.35943
- By:
- Publication type:
- Article
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1543, doi. 10.1002/ajmg.a.35983
- By:
- Publication type:
- Article
Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1737, doi. 10.1002/ajmg.a.35954
- By:
- Publication type:
- Article
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1755, doi. 10.1002/ajmg.a.35965
- By:
- Publication type:
- Article
Daytime somnolence in an adult with smith-magenis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1803, doi. 10.1002/ajmg.a.35936
- By:
- Publication type:
- Article
Response to 'germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures' by mariani et al.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1827, doi. 10.1002/ajmg.a.35987
- By:
- Publication type:
- Article
Table of Contents, Volume 161A, Number 7, July 2013.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. fm i, doi. 10.1002/ajmg.a.36091
- Publication type:
- Article
Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and NPHP3 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1743, doi. 10.1002/ajmg.a.35958
- By:
- Publication type:
- Article