Results 91 to 100 of about 265,208 (194)

Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction – a case report and literature review

Case Reports in Perinatal Medicine
Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born with an empty eye socket.
El-Nahry Yasmin H.A., Bardinet Victor, Bührer Christoph, Henrich Wolfgang   +3 more
doaj   +1 more source

Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men.

, 2019
The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, abnormal hypothalamus, and display perinatal lethality.
Smits, Guillaume, Vilain, Catheline, Heinrichs, Claudine, Kozhemyakina, E, Balikova, Irina, Mathers, P H, Boros, EMESE, Soblet, Julie, Brachet, Cécile   +8 more
core   +1 more source

Imaging of pediatric pituitary endocrinopathies

Indian Journal of Endocrinology and Metabolism, 2012
Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty,
Vikas Chaudhary, Shahina Bano
doaj   +1 more source

Solitary median maxillary central incisor (SMMCI) syndrome

Orphanet Journal of Rare Diseases, 2006
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated
Hall Roger K
doaj   +1 more source

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

Children
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved ...
Claudia Santoro, Francesca Aiello, Antonella Farina, Emanuele Miraglia del Giudice, Filomena Pascarella, Maria Rosaria Licenziati, Nicola Improda, Giulio Piluso, Annalaura Torella, Francesca Del Vecchio Blanco, Mario Cirillo, Vincenzo Nigro, Anna Grandone   +12 more
doaj   +1 more source

Molecular Diagnosis CDH2

, 2020
Table and figures of Congenital hypopituitarism patient with N-cadherin allelic variant that reduces cell ...
Nathalia Garcia Bianchi Pereira Ferreira (8285808)
core   +1 more source

Hospitalisation in Children with Adrenal Insufficiency and Hypopituitarism: Is There a Differential Burden between Boys and Girls and between Age Groups?

, 2017
To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia. A retrospective study of Australian hospitalisation data.
Falhammar, Henrik, Torpy, DJ, Chrisp, GL, David J. Torpy, Dean, Benjamin, Dean, B, R. Louise Rushworth, Rushworth, R Louise, Chrisp, Georgina L, Georgina L. Chrisp, Torpy, David J, Henrik Falhammar, Rushworth, RL, Falhammar, H,, Benjamin Dean   +14 more
core   +1 more source

Knockout mice with pituitary malformations help identify human cases of hypopituitarism

Genome Medicine
Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis   +13 more
doaj   +1 more source

[Congenital hypopituitarism: report of 23 cases].

Revista medica de Chile, 2009
Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of this condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients.To report
Juan Javier, Lammoglia, Francisca, Eyzaguirre, Nancy, Unanue, Rossana, Román, Ethel, Codner, Fernando, Cassorla, Verónica, Mericq   +6 more
openaire   +2 more sources

Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects

, 2015
Context and ObjectiveSonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation.
Sonir R. Antonini, Antônio C. Santos, Sabrina Soares Paulo, Santos, Antonio C., Fernandes-Rosa, Fabio L., Castro, Margaret de, Antonini, Sonir R., Fábio L. Fernandes‐Rosa, Guilherme S. Nakiri, Fernanda Borchers Coeli‐Lacchini, Ayrton C. Moreira, Wendy Turatti, Margaret de Castro, Paulo, Sabrina Soares, Moreira, Ayrton C., Carlos E. Martinelli, Coeli-Lacchini, Fernanda Borchers, Martinelli, Carlos E., Nakiri, Guilherme S., Turatti, Wendy   +19 more
core   +1 more source