Faculty

Ave Lachiewicz

Associate Professor of Pediatrics

Pediatrics, Neurology
School of Medicine

Assistant Professor in Psychiatry and Behavioral Sciences

Psychiatry & Behavioral Sciences
School of Medicine
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3000 Erwin Rd, Trent Dr., Durham, NC 27705

Box 3364 Med Ctr, Durham, NC 27710

(919) 668-4468 lachi002@mc.duke.edu

fragile X syndrome


Education & Training

M.D. 1980

University of Minnesota, Twin Cities

Grants

Alcobra AL014 Fraglie X Study

Alcobra Ltd.

Candidate Gene Analysis of Persistent AD/HD

National Institutes of Health

What about adolescence? Living with genetic risk

National Institutes of Health

Phenotypic Markers in Females with Fragile X Premutation

National Institutes of Health
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Publications

Fragile X syndrome: a review of associated medical problems.

PMID 25287458
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Psychometric study of the aberrant behavior checklist in fragile X syndrome and implications for targeted treatment

PMID 21972117
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Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

PMID 20629912
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Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families.

PMID 20032819
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Effects of postnatal parental smoking on parent and teacher ratings of ADHD and oppositional symptoms.

PMID 19525745
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Advances in the treatment of fragile x Syndrome

PMID 19117905
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SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families.

PMID 18821566
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Epidemiologic support for melanoma heterogeneity using the surveillance, epidemiology, and end results program.

PMID 18408748
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Survival differences between patients with scalp or neck melanoma and those with melanoma of other sites in the Surveillance, Epidemiology, and End Results (SEER) program.

PMID 18427046
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Living with genetic risk: effect on adolescent self-concept.

PMID 18200514
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Weight and activity change in overweight and obese patients after primary total knee arthroplasty.

PMID 18165026
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Epidemiologic support for melanoma heterogeneity using the Surveillance, Epidemiology, and End Results Program.

PMID 17713570
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Muir-Torre syndrome.

PMID 17902735
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Arithmetic difficulties in females with the fragile X premutation.

PMID 16508954
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Carrier testing in fragile X syndrome: when to tell and test.

PMID 12116269
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Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

PMID 11426454
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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

PMID 10995510
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Carrier testing in fragile X syndrome: effect on self-concept.

PMID 10861663
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Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

PMID 10842286
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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA

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Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.

PMID 10215541
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Ocular status of boys with fragile X syndrome: A prospective study

PMID 10646752
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Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

PMID 8986278
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A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

PMID 8844065
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Trajectories and profiles of adaptive behavior in males with fragile X syndrome: Multicenter studies

PMID 8792261
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Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

PMID 8585564
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Females with fragile X syndrome: A review of the effects of an abnormal FMR1 gene

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Psychological and emotional studies of the fragile X mutation. A workshop summary

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Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire.

PMID 7943000
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Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

PMID 7942990
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Do young boys with fragile X syndrome have macroorchidism?

PMID 8190590
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Aberrant behaviors of young boys with fragile X syndrome.

PMID 8192902
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Do young boys with fragile X syndrome have macroorchidism?

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Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

PMID 8213810
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An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

PMID 8281165
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Abnormal behaviors of young girls with fragile X syndrome.

PMID 1605238
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Brief screening questionnaire for determining affected state in fragile X syndrome: A consensus recommendation

PMID 1605236
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Association of the Robin sequence with the fragile X syndrome.

PMID 1789278
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Townes-Brocks syndrome in two mentally retarded youngsters.

PMID 1951448
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Developmental implications of changing trajectories of IQ in males with fragile X syndrome.

PMID 2324062
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What is the fragile X syndrome?

PMID 3287184
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Declining IQs of young males with the fragile X syndrome.

PMID 3426837
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Hereditary renal disease and preauricular pits: report of a kindred.

PMID 3998953
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Concurrent agenesis of the corpus callosum and ureteroceles in siblings.

PMID 3991279
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