Topic: Female

Journal: American Journal of Medical Genetics. Part A

Documents

A list of abstracts that contain a topic of "Female" and a journal name of "American Journal of Medical Genetics. Part A".

• A Newborn with Anophthalmia and Pulmonary Hypoplasia (The Matthew-wood Syndrome).

  PMID: 16761298

• An Association of Hutchinson-gilford Progeria and Malignancy.

  PMID: 17618517

• A Novel Patient with Cooks Syndrome Supports Splitting from "Classic" Brachydactyly Type B.

  PMID: 17163524

• Microarray Comparative Genomic Hybridization and Fish Studies of an Unbalanced Cryptic Telomeric 2p Deletion/16q Duplication in a Patient with Mental Retardation and Behavioral Problems.

  PMID: 17345620

• Case of Chromosome 6p25 Terminal Deletion Associated with Axenfeld-rieger Syndrome and Persistent Hyperplastic Primary Vitreous.

  PMID: 16470791

• Clinical and Molecular Cytogenetic Characterization of Two Patients with Non-mutational Aberrations of the Fmr2 Gene.

  PMID: 17343270

• Karyotype-phenotype Insights from 11q14.1-q23.2 Interstitial Deletions: Fzd4 Haploinsufficiency and Exudative Vitreoretinopathy in a Patient with a Complex Chromosome Rearrangement.

  PMID: 17103440

• Wagr(O?) Syndrome and Congenital Ptosis Caused by an Unbalanced T(11;15)(P13;p11.2)dn Demonstrating a 7 Megabase Deletion by Fish.

  PMID: 16646034

• A New Case of Grange Syndrome Without Cardiac Findings.

  PMID: 16691574

• Vitreous Phenotype: a Key Diagnostic Sign in Stickler Syndrome Types 1 and 2 Complicated by Double Heterozygosity.

  PMID: 17318849

• Blepharophimosis-mental Retardation (Bmr) Syndromes: A Proposed Clinical Classification of the So-called Ohdo Syndrome, and Delineation of Two New Bmr Syndromes, One X-linked and One Autosomal Recessive.

  PMID: 16700052

• Behavioral Problems in Relation to Intelligence in Children with 22q11.2 Deletion Syndrome: a Matched Control Study.

  PMID: 17318841

• A Family with Features Overlapping Okihiro Syndrome, Hemifacial Microsomia and Isolated Duane Anomaly Caused by a Novel Sall4 Mutation.

  PMID: 16411190

• Compound Heterozygosity of Shox-encompassing and Downstream Par1 Deletions Results in Langer Mesomelic Dysplasia (Lmd).

  PMID: 17394206

• A Novel Splice Site Mutation in Eya4 Causes Dfna10 Hearing Loss.

  PMID: 17568404

• Familial Adenomatous Polyposis (Fap): Genotype Correlation to Fap Phenotype with Osteomas and Sebaceous Cysts.

  PMID: 16411234

• A Constitutional Telomeric Translocation Showing Meiotic Instability.

  PMID: 16688752

• Screening and Biochemical Analysis of Gata4 Sequence Variations Identified in Patients with Congenital Heart Disease.

  PMID: 17352393

• A Family with X-linked Optic Atrophy Linked to the Opa2 Locus Xp11.4-xp11.2.

  PMID: 16969871

• Increased Rate of Major Birth Malformations in Infants with Neonatal "Asymmetric Crying Face": a Hospital-based Cohort Study.

  PMID: 17256788

• Manifestations in a Family with Autosomal Dominant Bone Fragility and Limb-girdle Myopathy.

  PMID: 16419137

• Genetic Information: Special or Not? Responses from Focus Groups with Members of a Health Maintenance Organization.

  PMID: 17318844

• Autosomal-recessive Syndrome with Alopecia, Hypogonadism, Progressive Extra-pyramidal Disorder, White Matter Disease, Sensory Neural Deafness, Diabetes Mellitus, and Low Igf1.

  PMID: 17167799

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