Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

(2017) Andrew T. Timberlake et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

(2016) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

(2016) Aimee L. Fenwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects

(2016) Marilyse B. L. Fernandes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IFT52mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

(2016) Wenjuan Zhang et al.   HUMAN MOLECULAR GENETICS

Heterozygous mutations inERFcause syndromic craniosynostosis with multiple suture involvement

(2015) Ayeshah Chaudhry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Eight patients with Williams syndrome and craniosynostosis

(2015) Kimiko Ueda et al.   European Journal of Medical Genetics

New insights into craniofacial malformations

(2015) Stephen R.F. Twigg et al.   HUMAN MOLECULAR GENETICS

Squamosal Suture Craniosynostosis Due to Hyperthyroidism Caused by an Activating Thyrotropin Receptor Mutation (T632I)

(2015) Reeti Chawla et al.   THYROID

Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

(2014) Nneamaka B. Agochukwu et al.   American Journal of Audiology

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH

(2013) Eunhe Cho et al.   CHILDS NERVOUS SYSTEM

A secondary craniosynostosis associated with juvenile hyperthyroidism

(2013) Takuya Higashino et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

(2012) Amanda S. Brasil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association between maternal age and birth defects of unknown etiology ― United States, 1997-2007

(2012) Simerpal K. Gill et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

(2012) Cristina M Justice et al.   NATURE GENETICS

Craniosynostosis

(2011) David Johnson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

(2011) Andreas Busche et al.   European Journal of Medical Genetics

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

(2011) Lisenka E. L. M. Vissers et al.   PLoS Genetics

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

(2010) Usha Kini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

(2010) Anne Goriely et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Craniosynostosis Involving the Squamous Temporal Sutures

(2010) Adrianna Ranger et al.   JOURNAL OF CRANIOFACIAL SURGERY

Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

(2010) A. O. M. Wilkie et al.   PEDIATRICS

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

(2009) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

(2009) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003

(2008) Sheree L. Boulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A