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Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1383, doi. 10.1002/ajmg.a.38179
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- Publication type:
- Article
Bilateral second toe superposition associated with neurofibromatosis type 1 and NF1 whole gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1431, doi. 10.1002/ajmg.a.38182
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- Publication type:
- Article
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1374, doi. 10.1002/ajmg.a.38128
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- Publication type:
- Article
Cover Image, Volume 173A, Number 5, May 2017.
- Published in:
- 2017
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- Publication type:
- Other
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1342, doi. 10.1002/ajmg.a.38110
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- Publication type:
- Article
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1152, doi. 10.1002/ajmg.a.38172
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- Publication type:
- Article
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174
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- Publication type:
- Article
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1301, doi. 10.1002/ajmg.a.38175
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- Publication type:
- Article
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1287, doi. 10.1002/ajmg.a.38176
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- Publication type:
- Article
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1447, doi. 10.1002/ajmg.a.38177
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- Publication type:
- Article
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178
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- Publication type:
- Article
Foremost Prenatal Physician, Scientist Tapped to Lead National Child Health Agency.
- Published in:
- 2017
- Publication type:
- Other
Mystery solved: Our son's autism and extreme self-injury is genetic and treatable.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1190, doi. 10.1002/ajmg.a.38198
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- Publication type:
- Article
Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1194, doi. 10.1002/ajmg.a.38138
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- Publication type:
- Article
De Novo Variants Associated With Developmental Disability.
- Published in:
- 2017
- Publication type:
- Other
John M Opitz, Founder of AJMG, awarded the German Merit of Honor.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1145, doi. 10.1002/ajmg.a.38202
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- Publication type:
- Article
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180
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- Publication type:
- Article
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1440, doi. 10.1002/ajmg.a.38143
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- Publication type:
- Article
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1219, doi. 10.1002/ajmg.a.38144
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- Publication type:
- Article
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1251, doi. 10.1002/ajmg.a.38145
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- Publication type:
- Article
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1348, doi. 10.1002/ajmg.a.38146
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- Publication type:
- Article
Adding value to genetic testing through utilization management: Commercial laboratory's experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1433, doi. 10.1002/ajmg.a.38147
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- Publication type:
- Article
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1396, doi. 10.1002/ajmg.a.38214
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- Publication type:
- Article
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1243, doi. 10.1002/ajmg.a.38160
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- Publication type:
- Article
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1172, doi. 10.1002/ajmg.a.38161
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- Publication type:
- Article
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1200, doi. 10.1002/ajmg.a.38162
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- Publication type:
- Article
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1364, doi. 10.1002/ajmg.a.38163
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- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
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- Publication type:
- Article
Neonatal characteristics and perinatal complications in neonates with Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1279, doi. 10.1002/ajmg.a.38165
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- Publication type:
- Article
DEVELOPMENTAL BIOLOGY, 11TH EDITION 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1430, doi. 10.1002/ajmg.a.38166
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- Publication type:
- Article
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1353, doi. 10.1002/ajmg.a.38167
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- Publication type:
- Article
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1264, doi. 10.1002/ajmg.a.38168
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- Publication type:
- Article
Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1270, doi. 10.1002/ajmg.a.38169
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- Publication type:
- Article
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1319, doi. 10.1002/ajmg.a.38207
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- Publication type:
- Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113
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- Publication type:
- Article
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1378, doi. 10.1002/ajmg.a.38181
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- Publication type:
- Article
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1334, doi. 10.1002/ajmg.a.38183
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- Publication type:
- Article
Table of Contents, Volume 173A, Number 5, May 2017.
- Published in:
- 2017
- Publication type:
- Other
Publication schedule for 2017.
- Published in:
- 2017
- Publication type:
- Other
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1390, doi. 10.1002/ajmg.a.38184
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- Publication type:
- Article
Corrigendum to 'Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.'.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1453, doi. 10.1002/ajmg.a.38185
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- Publication type:
- Article
In gratitude for an undeserved gift*.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1147, doi. 10.1002/ajmg.a.38186
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- Publication type:
- Article
Variations on the theme of how to write a scientific article.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1149, doi. 10.1002/ajmg.a.38187
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- Publication type:
- Article
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1400, doi. 10.1002/ajmg.a.38188
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- Publication type:
- Article
In This Issue.
- Published in:
- 2017
- Publication type:
- Other
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1226, doi. 10.1002/ajmg.a.38150
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- Publication type:
- Article
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1208, doi. 10.1002/ajmg.a.38151
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- Publication type:
- Article
The association of maternal lymphatic markers and critical congenital heart defects in the fetus-A population based case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1231, doi. 10.1002/ajmg.a.38152
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- Publication type:
- Article
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1186, doi. 10.1002/ajmg.a.38157
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- Publication type:
- Article
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1436, doi. 10.1002/ajmg.a.38154
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- Publication type:
- Article