Topic: Humans

Journal: American Journal of Medical Genetics. Part A

Documents

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

• Atrioventricular Block and Wiry Hair in Teebi Hypertelorism Syndrome.

  PMID: 16906548

• Clinical Experience with Array Cgh: Case Presentations from Nine Months of Practice.

  PMID: 16906557

• Bifid Tongue: a Rare Feature Associated with Infants of Diabetic Mother Syndrome.

  PMID: 17663469

• Col2a1-related Skeletal Dysplasias with Predominant Metaphyseal Involvement.

  PMID: 17163530

• Mild Craniosynostosis with 1p36.3 Trisomy and 1p36.3 Deletion Syndrome Caused by Familial Translocation T(Y;1).

  PMID: 16835918

• Clinical Variation of Aarskog Syndrome in a Large Family with 2189dela in the Fgd1 Gene.

  PMID: 16353258

• Elejalde Syndrome--a Case Report.

  PMID: 16969863

• Somatic Mosaicism for an Hras Mutation Causes Costello Syndrome.

  PMID: 16969868

• Osteocraniostenosis-hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia. Four New Cases with Distinctive Chondro-osseous Morphology.

  PMID: 16770805

• Trigonocephaly in Muenke Syndrome.

  PMID: 17036334

• Cerebellar Atrophy in Schimke-immuno-osseous Dysplasia.

  PMID: 17676601

• Nevo Syndrome with an Nsd1 Deletion: a Variant of Sotos Syndrome?

  PMID: 16329110

• Hydrocephaly, Penoscrotal Transposition, and Digital Anomalies Associated with De Novo Pseudodicentric Rearranged Chromosome 13 Characterized by Classical Cytogenetic Methods and Mband Analysis.

  PMID: 16691582

• Behavioral and Temperamental Features of Children with Costello Syndrome.

  PMID: 16575889

• Report of a Fourth Individual with a Lethal Syndrome of Choanal Atresia, Athelia, Evidence of Renal Tubulopathy, and Family History of Neck Cysts.

  PMID: 17486625

• Variable Contribution of the Mthfr C677t Polymorphism to Non-syndromic Cleft Lip and Palate Risk in China.

  PMID: 16470725

• Ntng1 Mutations Are a Rare Cause of Rett Syndrome.

  PMID: 16502428

• Linkage Analysis of Genetic Loci for Kyphoscoliosis on Chromosomes 5p13, 13q13.3, and 13q32.

  PMID: 16596674

• Oculocerebrocutaneous and Encephalocraniocutaneous Lipomatosis Syndromes: Blind Men and an Elephant or Separate Syndromes?

  PMID: 16523517

• Interstitial 2.2 Mb Deletion at 9q34 in a Patient with Mental Retardation but Without Classical Features of the 9q Subtelomeric Deletion Syndrome.

  PMID: 16470689

• High Cognitive Functioning and Behavioral Phenotype in Pallister-killian Syndrome.

  PMID: 16906561

• Fbn2, Fbn1, Tgfbr1, and Tgfbr2 Analyses in Congenital Contractural Arachnodactyly.

  PMID: 17345643

• A New Distal Arthrogryposis Syndrome Characterized by Plantar Flexion Contractures.

  PMID: 17103435

• Sudden Infant Death in a Patient with Fgfr3 P250r Mutation.

  PMID: 17103449

• Long-term Outcome of Leigh Syndrome Caused by the Narp-t8993c Mtdna Mutation.

  PMID: 17663470

• Thirty-two Year Follow-up of the First Patient Reported with the Floating-harbor Syndrome.

  PMID: 16523514

• Triplication of 8p22-8p23 in a Patient with Features Similar to Kabuki Syndrome.

  PMID: 16353235

• Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a Girl with Cornelia-de Lange Syndrome Carrying T(5;13)(P13.1;q12.1) by Array-based Comparative Genomic Hybridization.

  PMID: 17497725

• Investigation of Confined Placental Mosaicism (Cpm) at Multiple Sites in Post-delivery Placentas Derived Through Intracytoplasmic Sperm Injection (Icsi).

  PMID: 16333823

• A Genome-wide Linkage Scan for Cleft Lip and Cleft Palate Identifies a Novel Locus on 8p11-23.

  PMID: 17366557

• Mandibulofacial Dysostosis in a Patient with a De Novo 2;17 Translocation That Disrupts the Hoxd Gene Cluster.

  PMID: 17431905

• Molecular Cytogenetic Analysis of a De Novo Interstitial Deletion of 5q23.3q31.2 and Its Phenotypic Consequences.

  PMID: 16470790

• Hematological Abnormalities During the First Week of Life Among Neonates with Down Syndrome: Data from a Multihospital Healthcare System.

  PMID: 17163522

• Obesity, Hypothyroidism, Craniosynostosis, Cardiac Hypertrophy, Colitis, and Developmental Delay: a Novel Syndrome.

  PMID: 17163533

• Oro-dental Features As Useful Diagnostic Tool in Rubinstein-taybi Syndrome.

  PMID: 17318847

• Dwarfs in Ancient Egypt.

  PMID: 16380966

• Delineation of a 2.2 Mb Microdeletion at 5q35 Associated with Microcephaly and Congenital Heart Disease.

  PMID: 16470726

• Attitudes and Beliefs of Pediatricians and Genetic Counselors Regarding Testing and Screening for Cf and G6pd: Implications for Policy.

  PMID: 17022079

• Gastroschisis and Associated Defects: an International Study.

  PMID: 17357116

• Sudden Infant Death Syndrome: Review of Implicated Genetic Factors.

  PMID: 17340630

• Ring Chromosome 4 and Wolf-hirschhorn Syndrome (Whs) in a Child with Multiple Anomalies.

  PMID: 16470698

• Pregnancy Outcome of Fetuses with Trisomy 18 Identified by Prenatal Sonography and Chromosomal Analysis in a Perinatal Center.

  PMID: 16652360

• A Newly Recognized Polyosteolysis/Hyperostosis Syndrome.

  PMID: 17001672

• Terminal Osseous Dysplasia with Pigmentary Defects: Clinical Description of a New Family.

  PMID: 17152064

• Development of Gastroschisis: Review of Hypotheses, a Novel Hypothesis, and Implications for Research.

  PMID: 17230493

• Access to Health Insurance: Experiences and Attitudes of Those with Genetic Versus Non-genetic Medical Conditions.

  PMID: 17290434

• Four Siblings with Distal Renal Tubular Acidosis and Nephrocalcinosis, Neurobehavioral Impairment, Short Stature, and Distinctive Facial Appearance: a Possible New Autosomal Recessive Syndrome.

  PMID: 17663471

• Preliminary Study of the Safety and Efficacy of Donepezil Hydrochloride in Children with Down Syndrome: a Clinical Report Series.

  PMID: 17542008

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