Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
RA Pagon, JM Graham Jr, J Zonana, SL Yong - The Journal of pediatrics, 1981 - Elsevier
We report 21 patients with choanal atresia or ocular coloboma or both who have certain
other associated anomalies, including congenital heart disease, postnatal growth deficiency …
other associated anomalies, including congenital heart disease, postnatal growth deficiency …
Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature
DR Witt, HE Hoyme, J Zonana… - American journal of …, 1987 - Wiley Online Library
The Noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with
numerous manifestations. An association with lymphedema has been noted, but its …
numerous manifestations. An association with lymphedema has been noted, but its …
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
J Kere, AK Srivastava, O Montonen, J Zonana… - Nature …, 1996 - nature.com
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X–linked
anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat …
anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat …
The neurobiology of postpartum depression
J Zonana, JM Gorman - CNS spectrums, 2005 - cambridge.org
Postpartum psychiatric changes can range from maternity blues to psychosis. Causality is
still undetermined, but explanations for these disturbances often focus on hormonal changes …
still undetermined, but explanations for these disturbances often focus on hormonal changes …
[PDF][PDF] A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma …
J Zonana, ME Elder, LC Schneider, SJ Orlow… - The American Journal of …, 2000 - cell.com
Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine
sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal …
sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal …
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
…, AS Tucker, MJ Justice, PT Sharpe, J Zonana… - Nature, 2001 - nature.com
Members of the tumour-necrosis factor receptor (TNFR) family that contain an intracellular
death domain initiate signalling by recruiting cytoplasmic death domain adapter proteins …
death domain initiate signalling by recruiting cytoplasmic death domain adapter proteins …
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
…, DJ Headon, SL Street, PA Overbeek, J Zonana - Nature …, 1999 - nature.com
X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair
and eccrine sweat glands 1. The gene (ED1) responsible for the disorder has been …
and eccrine sweat glands 1. The gene (ED1) responsible for the disorder has been …
Deletions and microdeletions of 22q11. 2 in velo‐cardio‐facial syndrome
…, RJ Shprintzen, HM Saal, J Zonana… - American journal of …, 1992 - Wiley Online Library
Velo‐cardio‐facial syndrome (VCFS), an autosomal dominant disorder, is characterized by
cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less …
cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less …
Mutations in GJB6 cause hidrotic ectodermal dysplasia
…, D Laoudj, G Lemaître, C Hand, SJ Hayflick, J Zonana… - Nature …, 2000 - nature.com
M. tuberculosis (Fig. 1). It seems that the detection of composite proteins is a complex
function of genome size, paralogy and phylogenetic distance. Almost one-half of the …
function of genome size, paralogy and phylogenetic distance. Almost one-half of the …
The Sultan and the Slave: Feminist Orientalism and the Structure of" Jane Eyre"
J Zonana - Signs: Journal of Women in Culture and Society, 1993 - journals.uchicago.edu
Rochester, Jane finds herself" obliged" to go with him to a silk warehouse at Millcote, where
she is" ordered to choose half a dozen dresses." Although she makes it clear that she" hated …
she is" ordered to choose half a dozen dresses." Although she makes it clear that she" hated …