L. Sadler

发表

The Williams syndrome: evidence for possible autosomal dominant inheritance.

L. Sadler, L. Robinson, K. R. Verdaasdonk, 1993, American journal of medical genetics.

Rationale and design for the blood pressure intervention of the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial.

J. Cutler, W. Cushman, K. Peterson, 2007, The American journal of cardiology.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Carotid ultrasound examination in Williams syndrome.

L. Sadler, R. Gingell, D. Martin, 1998, The Journal of pediatrics.

Diabetic embryopathy: possible pathogenesis.

M. Msall, L. Sadler, L. Robinson, 1995, American journal of medical genetics.

Early puberty in Williams syndrome.

B. Pober, L. Sadler, T. Carpenter, 1999, Clinical dysmorphology.

Delay in Diagnosis of Williams Syndrome

M. O'riordan, N. Robin, L. Sadler, 2002, Clinical pediatrics.

Differences by sex in cardiovascular disease in Williams syndrome.

A. Grandinetti, B. Pober, G. Fekete, 2001, The Journal of pediatrics.

Fasting glucose levels and incident diabetes mellitus in older nondiabetic adults randomized to receive 3 different classes of antihypertensive treatment: a report from the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT).

B. Davis, P. Whelton, J. Cutler, 2006, Archives of internal medicine.

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Renée M. Reynolds, M. Markiewicz, L. Sadler, 2022, Surgical neurology international.

The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report

L. Sadler, Nadav I Weinstock, 2021, American journal of medical genetics. Part A.

Psychiatric Diagnoses in Patients with Williams Syndrome and Their Families

L. Sadler, D. Kaye, J. Kennedy, 2006 .

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

T. Mullen, S. Edvardson, A. Shaag, 2017, American journal of human genetics.

Subnormal binocular vision in the Williams syndrome.

L. Sadler, J. Reynolds, S. Olitsky, 1997, Journal of pediatric ophthalmology and strabismus.

Reduced stereoacuity in Williams syndrome.

L. Sadler, J. Reynolds, S. Olitsky, 1996, American journal of medical genetics.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

A Possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from medieval Iceland (13th-16th Century).

L. Sadler, Sarah Hoffman, Trevor Totman, 2019, International journal of paleopathology.

What If Chlorthalidone-Associated Hyperglycemia Develops?—Reply

B. Davis, P. Whelton, J. Cutler, 2007 .

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.

L. Sadler, L. Robinson, 1993, American journal of medical genetics.

Rationale and design for the blood pressure intervention of the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial.

J. Cutler, W. Cushman, K. Peterson, 2007, The American journal of cardiology.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.