Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

(2011) Jessica L Mester et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

(2011) Isabel Rodríguez-Escudero et al.   HUMAN MOLECULAR GENETICS

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

(2011) R. Pilarski et al.   JOURNAL OF MEDICAL GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

(2010) Katayoun Vahedi et al.   CURRENT OPINION IN NEUROLOGY

Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay

(2009) N E Lynch et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

(2009) Arnolfo de Carvalho-Neto et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

PTEN hamartoma tumor syndrome: An overview

(2009) Judith A Hobert et al.   GENETICS IN MEDICINE

PTEN hamartoma tumor syndromes

(2008) Gideon M Blumenthal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cowden Syndrome: A Critical Review of the Clinical Literature

(2008) Robert Pilarski   Journal of Genetic Counseling

Virchow-Robin spaces relate to cerebral small vessel disease severity

(2008) R. P. W. Rouhl et al.   JOURNAL OF NEUROLOGY

Dilated Perivascular Spaces: An Informative Radiologic Finding in Sanfilippo Syndrome Type A

(2008) Simay Kara et al.   PEDIATRIC NEUROLOGY