Results 51 to 60 of about 540,513 (260)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

The onset of puberty in adolescents with type 1 diabetes mellitus in comparison to a group of non-diabetic teenagers in Erbil City: A cross-sectional comparative study

Zanco Journal of Medical Sciences
Background and objective: Puberty and type 1 diabetes (T1DM) have a complex relationship. This study aims to determine the prevalence of delayed puberty among a sample of type 1 diabetes adolescents and compare it to a non-diabetic group.
Ali Shakir Dauod, Aziz Muzafar Jafaar, Nawa Mohammed Abdullah   +2 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series

Journal of the Pakistan Medical Association
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This
Versha Rani Rai, Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, Roshia Parveen   +5 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
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  

Comparative Analysis of Violations of Physical and Sexual Development in Children and Adolescents (Boys) with Various Mass Lesions of the Hypothalamic-Pituitary Region

Mìžnarodnij Endokrinologìčnij Žurnal, 2013
In this paper, the authors analyze the results of the survey 29 adolescent boys with different mass lesions of the hypothalamic-pituitary region. It is established a variety of disorders of growth and development, such as growth retardation (20.6 ...
Yu.M. Urmanova, U.Kh. Mavlonov
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

Endocrinology, Diabetes & Metabolism Case Reports, 2020
Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of
Satyanarayana V Sagi, Hareesh Joshi, Emily Whiles, Mondy Hikmat, Vijith R Puthi, Jane MacDougall, Sarah L Spiden, Gavin Fuller, Soo-Mi Park, Samson O Oyibo   +9 more
doaj   +1 more source