Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 8
Results: 50
Genetic cause of rare disease may be involved in more common birth defects.
- Published in:
- 2011
- Publication type:
- Other
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1825, doi. 10.1002/ajmg.a.33952
- By:
- Publication type:
- Article
Rebuttal to the invited comment of Opitz and Carey.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2037, doi. 10.1002/ajmg.a.34112
- By:
- Publication type:
- Article
Duplication of the STS region in males is a benign copy-number variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1972, doi. 10.1002/ajmg.a.33985
- By:
- Publication type:
- Article
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2031, doi. 10.1002/ajmg.a.34105
- By:
- Publication type:
- Article
Reaching across the disability divide: The case for collaboration with the disability community to construct a robust informed consent process around prenatal screening and diagnosis.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Are genetic counselors just misunderstood? Thoughts on 'The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary'.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2011, doi. 10.1002/ajmg.a.34064
- By:
- Publication type:
- Article
Trisomy 13 (Patau syndrome) and craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2018, doi. 10.1002/ajmg.a.34086
- By:
- Publication type:
- Article
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1848, doi. 10.1002/ajmg.a.34057
- By:
- Publication type:
- Article
Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1981, doi. 10.1002/ajmg.a.34079
- By:
- Publication type:
- Article
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100
- By:
- Publication type:
- Article
Embracing the unique role of genetic counselors: Response to the commentary by Madeo et al.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1791, doi. 10.1002/ajmg.a.34111
- By:
- Publication type:
- Article
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2003, doi. 10.1002/ajmg.a.34122
- By:
- Publication type:
- Article
Revisiting recombinant 8 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1923, doi. 10.1002/ajmg.a.34104
- By:
- Publication type:
- Article
Delineation of dermatan 4- O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1949, doi. 10.1002/ajmg.a.34115
- By:
- Publication type:
- Article
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1865, doi. 10.1002/ajmg.a.34081
- By:
- Publication type:
- Article
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1833, doi. 10.1002/ajmg.a.34005
- By:
- Publication type:
- Article
Megacystis, megacolon, and malrotation: A new syndromic association?
- Published in:
- 2011
- By:
- Publication type:
- Other
A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2021, doi. 10.1002/ajmg.a.34096
- By:
- Publication type:
- Article
The ancient Egyptian dwarfs of the pyramids: The high official and the female worker.
- Published in:
- 2011
- By:
- Publication type:
- Other
Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1964, doi. 10.1002/ajmg.a.33210
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2011
- Publication type:
- Other
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1959, doi. 10.1002/ajmg.a.34121
- By:
- Publication type:
- Article
Bias in patient series with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2039, doi. 10.1002/ajmg.a.33983
- By:
- Publication type:
- Article
Discovery of genetic susceptibility factors for human birth defects: An opportunity for a national agenda.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1939, doi. 10.1002/ajmg.a.34114
- By:
- Publication type:
- Article
Table of Contents, Volume 155, Number 8, August 2011.
- Published in:
- 2011
- Publication type:
- Other
A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1897, doi. 10.1002/ajmg.a.34091
- By:
- Publication type:
- Article
Monozygotic twins with variable expression of Van der Woude Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2008, doi. 10.1002/ajmg.a.34022
- By:
- Publication type:
- Article
Constructing 'best interests': Genetic testing of children in families with hypertrophic cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1930, doi. 10.1002/ajmg.a.34107
- By:
- Publication type:
- Article
Masticatory muscle defects in hemifacial microsomia: A new embryological concept.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1991, doi. 10.1002/ajmg.a.34095
- By:
- Publication type:
- Article
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1976, doi. 10.1002/ajmg.a.34077
- By:
- Publication type:
- Article
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2028, doi. 10.1002/ajmg.a.34099
- By:
- Publication type:
- Article
New legal model suggested for DNA samples given to biobanks.
- Published in:
- 2011
- Publication type:
- Other
Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2042, doi. 10.1002/ajmg.a.33982
- By:
- Publication type:
- Article
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1917, doi. 10.1002/ajmg.a.34102
- By:
- Publication type:
- Article
The FRAXopathies: Definition, overview, and update.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1803, doi. 10.1002/ajmg.a.34113
- By:
- Publication type:
- Article
Book review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2035, doi. 10.1002/ajmg.a.34124
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 155, Number 8, August 2011.
- Published in:
- 2011
- Publication type:
- Other
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1884, doi. 10.1002/ajmg.a.34090
- By:
- Publication type:
- Article
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1996, doi. 10.1002/ajmg.a.34106
- By:
- Publication type:
- Article
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1857, doi. 10.1002/ajmg.a.34072
- By:
- Publication type:
- Article
The relationship between the genetic counseling profession and the disability community: A commentary.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1777, doi. 10.1002/ajmg.a.34054
- By:
- Publication type:
- Article
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1987, doi. 10.1002/ajmg.a.34094
- By:
- Publication type:
- Article
Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2044, doi. 10.1002/ajmg.a.34065
- By:
- Publication type:
- Article
Achondroplasia with synostosis of multiple sutures.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1969, doi. 10.1002/ajmg.a.33744
- By:
- Publication type:
- Article
A pigmentary skin defect is a new finding in Marshall-Smith syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2015, doi. 10.1002/ajmg.a.34076
- By:
- Publication type:
- Article
How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1877, doi. 10.1002/ajmg.a.34087
- By:
- Publication type:
- Article
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2024, doi. 10.1002/ajmg.a.34098
- By:
- Publication type:
- Article