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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 6 of 6

Publication Record


The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL
(2015) J Med Genet 52: 147-56
MeSH Terms: Animals, Centrioles, Chromosomal Proteins, Non-Histone, Cilia, Exome, Female, Fetus, Genetics, Medical, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Microcephaly, Microfilament Proteins, Mutation, NIH 3T3 Cells, Pedigree, Pregnancy, Zebrafish
Added September 28, 2015
1 Communities
1 Members
0 Resources
20 MeSH Terms
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE
(2008) N Engl J Med 359: 1685-99
MeSH Terms: Autistic Disorder, Cataract, Child, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 1, Congenital Abnormalities, Female, Gene Duplication, Gene Rearrangement, Genetic Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Male, Microcephaly, Phenotype, Recombination, Genetic
Added February 20, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
Critical periods for the effects of alcohol exposure on brain weight, body weight, activity and investigation.
Tran TD, Cronise K, Marino MD, Jenkins WJ, Kelly SJ
(2000) Behav Brain Res 116: 99-110
MeSH Terms: Animals, Body Weight, Brain, Central Nervous System Depressants, Ethanol, Exploratory Behavior, Female, Male, Microcephaly, Motor Activity, Rats, Rats, Long-Evans
Added January 22, 2015
0 Communities
1 Members
0 Resources
12 MeSH Terms
Microcephaly with short stature, macrocytosis, and pancytopenia.
DeBaun MR, Wall DA, Watson MS
(1993) Am J Pediatr Hematol Oncol 15: 356-60
MeSH Terms: Body Height, Child, Diagnosis, Differential, Erythrocytes, Abnormal, Fanconi Anemia, Humans, Male, Microcephaly, Pancytopenia
Added November 27, 2013
1 Communities
1 Members
0 Resources
9 MeSH Terms
Two patients with ring chromosome 15 syndrome.
Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA
(1988) Am J Med Genet 29: 149-54
MeSH Terms: Abnormalities, Multiple, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Female, Growth Disorders, Humans, Intellectual Disability, Male, Microcephaly, Ring Chromosomes, Speech Disorders, Syndrome
Added January 20, 2012
1 Communities
1 Members
0 Resources
14 MeSH Terms
Pregnancy outcome following exposure to angiotensin-converting enzyme inhibitors.
Piper JM, Ray WA, Rosa FW
(1992) Obstet Gynecol 80: 429-32
MeSH Terms: Abnormalities, Drug-Induced, Adolescent, Adult, Angiotensin-Converting Enzyme Inhibitors, Anuria, Cohort Studies, Encephalocele, Female, Humans, Hypertension, Infant, Newborn, Microcephaly, Pregnancy, Pregnancy Complications, Cardiovascular, Pregnancy Outcome, Tennessee
Added March 5, 2014
0 Communities
1 Members
0 Resources
16 MeSH Terms