Topic: Male
Journal: American Journal of Medical Genetics. Part A
Documents
A list of abstracts that contain a topic of "Male" and a journal name of "American Journal of Medical Genetics. Part A".
A Newly Recognized, Likely Autosomal Recessive Syndrome Comprising Agammaglobulinemia, Microcephaly, Craniosynostosis, Severe Dermatitis, and Other Features.
PMID: 16691627
Two Novel Point Mutations in the Long-range Shh Enhancer in Three Families with Triphalangeal Thumb and Preaxial Polydactyly.
PMID: 17152067
Novel Syndrome of Cataracts, Retinitis Pigmentosa, Late Onset Deafness and Sperm Abnormalities: a New Usher Syndrome Subtype with X-linked Inheritance?
PMID: 17431906
Familial Occurrence of Multiple Pterygium Syndrome: Expression in a Heterozygote of the Recessive Form or Variability of the Dominant Form?
PMID: 16964621
Duplication/Deletion Mosaicism of the 7q(21.1 --> 31.3) Region.
PMID: 17163539
Diagnostic Yield of Chromosome Analysis in Patients with Developmental Delay or Mental Retardation Who Are Otherwise Nondysmorphic.
PMID: 17022071
Genochondromatosis Type Ii: Report of a New Patient and Further Delineation of the Phenotype.
PMID: 17632779
Sibling Cases of Vici Syndrome: Sleep Abnormalities and Complications of Renal Tubular Acidosis.
PMID: 17163544
A Subterminal Deletion of the Long Arm of Chromosome 10: a Clinical Report and Review.
PMID: 16419133
Cryptic Duplication of 12q24.33 --> Qter in a Child with Angelman Syndrome-simultaneous Occurrence of Two Unrelated Cytogenetic Events.
PMID: 17394213
A New Syndrome of Microtia with Mixed Type Hearing Loss, Renal Agenesis, and Multiple Skeletal Anomalies.
PMID: 16502432
Paternal Isodisomy of Chromosome 7 with Cystic Fibrosis and Overgrowth.
PMID: 16835920
A Patient with Duplication (7)(P22.1pter) Characterized by Array-cgh.
PMID: 17163527
A Novel Rsk2 (Rps6ka3) Gene Mutation Associated with Abnormal Brain Mri Findings in a Family with Coffin-lowry Syndrome.
PMID: 16691578
Consanguineous Marriage and Congenital Heart Defects: a Case-control Study in the Neonatal Period.
PMID: 16763961
Recurrent Interstitial Deletions of Proximal 18q: a New Syndrome Involving Expressive Speech Delay.
PMID: 17486614
Inverse Association Between Severe Nausea and Vomiting in Pregnancy and Some Congenital Abnormalities.
PMID: 16470733
Psychopathology in the Lujan-fryns Syndrome: Report of Two Patients and Review.
PMID: 17036352
Two Cases Further Delineating the Sakoda Complex.
PMID: 17256790
Antenatal Presentation of the Oculo-auriculo-vertebral Spectrum (Oavs).
PMID: 16761296
Interferon Regulatory Factor 6 (Irf6) and Fibroblast Growth Factor Receptor 1 (Fgfr1) Contribute to Human Tooth Agenesis.
PMID: 17318851