Results 61 to 70 of about 540,513 (260)

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

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

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

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

Hypothyroidism-associated testicular enlargement: is it a form of precocious puberty or not? A case report

The Turkish Journal of Pediatrics, 2011
In children with untreated hypothyroidism, the onset of puberty is usually delayed, but gonadotropin-independent precocious puberty may occur in children with severe hypothyroidism of long duration.
Ihsan Esen, Fatma Demirel
doaj  

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

Treatment of Peripheral Precocious Puberty

, 2016
There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual.
Schoelwer, Melissa, Erica A. Eugster, Melissa Schoelwer, Eugster, Erica A.   +3 more
core   +1 more source

Role of IGSF10 mutations in self-limited delayed puberty [PDF]

, 2016
Background Abnormal timing of puberty affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined.
Sternberg, M, Warren, H, Gerard Ruiz-Babot, Valentina Andre, Barnes, M, Michael Sternberg, Wehkalampi, K, Andre, V, Sasha Howard, Helen Storr, Michael Barnes, Leo Dunkel, Leo Guasti, David, A, Cabrera, C, Mancini, A, Louise Metherell, Alessandra Mancini, Helen Warren, Karoliina Wehkalampi, Alessia David, Guasti, L, Anna Cariboni, Gothilf, Y, Ruiz-Babot, G, Yoav Gothilf, Metherell, L, Claudia Cabrera, Howard, S, Cariboni, A, Storr, H, Dunkel, L   +31 more
core   +1 more source

Craniofacial growth, modeling, and estimation of milestones

The Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood, Dana L. Duren, Christina L. Holzhauser, Hee Soo Oh, Manish Valiathan, Kieran P. McNulty, Kevin M. Middleton   +6 more
wiley   +1 more source

Juvenile Granulosa Cell Tumor with Elevated Peripheral Interleukin-6 Level Shows Prolonged Fever and Delayed Puberty [PDF]

Juvenile granulosa cell tumor (JGCT), classified as a sex cord-stromal tumor, is a rare neoplasm. This is an instructive case report of JGCT accompanied by augmented interleukin (IL)-6 secretion.
17268, 17269, Okuno, Keisuke, Nishimura, Rei, Kanzaki, Susumu, Kuwamoto, Satoshi, 100000360, 90224873, 791, 60229226, 572, 1855, 100000861, Harada, Tasuku, 100000223, 100000421, 1311, 100001118, 60567189, Horie, Yasushi, 2649, Komatsu, Hiroaki, Ueyama, Jun-ichi, 17270, 17271, Sano, Hiroshi, 2919, 100000139, 40218649, Yoneda, Naohiro   +29 more
core   +1 more source