Results 71 to 80 of about 31,436 (263)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Comparing Pituitary MRI Findings in Patients with Thalassemia with and without Delayed Puberty

مجله دانشکده پزشکی اصفهان, 2011
Background: β-thalassemia major is among the most common genetic disorders in Iran. Blood transfusion, as the main stem of management of these patients, has numerous side effects including iron overload.
Atoosa Adibi, Ali Hekmatnia, Maryam Moradi, Ali Asghar Rahmani, Mohammad Hassan Moaddab   +4 more
doaj  

A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: Sex-specific kisspeptin as an integrator of puberty signals

Frontiers in Endocrinology, 2012
The major determinants of the variability in pubertal maturation are reported to be genetic and inherited. Nonetheless, nutritional status contributes significantly to this variability. Malnutrition delays puberty whereas obesity has been associated to a
Suzy eBianco, Suzy eBianco
doaj   +1 more source

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

, 2019
BACKGROUND: Hypogonadotropic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders ...
Vide Ohlsson Gotby, Almqvist, Catarina,, Serlachius, Eva,, Henrik Larsson, Ohlsson Gotby, Vide,, Frisén, Louise,, Larsson, Henrik,, Catarina Almqvist, Paul Lichtenstein, Louise Frisén, Tammimies, Kristiina,, Eva Serlachius, Kristiina Tammimies, Lichtenstein, Paul,, Sven Bölte, Bölte, Sven,, Olle Söder, Söder, Olle,   +17 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A 21-year-old Man with Delayed Puberty [PDF]

, 2020
Delayed puberty is defined clinically by the absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation.
Hassanpour Akbar, Aletaha Najmeh, Talayi M A, Talayi M, Dadvar Zohreh, Allameh Seyed Farshad, Salehi Babak, Ketabimoghaddam Pardis   +7 more
core  

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Evaluation of Serum Leptin Levels and Growth in Patients with β-Thalassaemia Major

Anemia, 2016
Background. Iron deposition in the body can damage the endocrine glands of patients with β-thalassaemia major (β-TM). Leptin plays a key role in the regulation of appetite, body fat mass, and endocrine function. Objectives.
Lamia Mustafa Al-Naama, Meaad Kadum Hassan, Muhannad Maki Abdul Karim   +2 more
doaj   +1 more source

The Genetic Basis of Delayed Puberty. [PDF]

, 2017
The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density, and compromised ...
Sasha R. Howard, Leo Dunkel, Howard, SR, Dunkel, L   +3 more
core   +1 more source

Developmental differences in cortical bone structure in chimpanzee and human femora reflect early locomotor independence in humans

The Anatomical Record, EarlyView.
Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan, Rachel Ives, Zewdi J. Tsegai, Louise T. Humphrey   +3 more
wiley   +1 more source