Results 61 to 70 of about 1,837 (195)

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

, 2015
BACKGROUND Mice harbouring gene mutations that cause phenotypic abnormalities during organogenesis are invaluable tools for linking gene function to normal development and human disorders.
Abud, Helen E, Arkell, Ruth, Bagheri-Fam, Stefan, Bertram, John F, Caruana, Georgina, Cole, Timothy, Dobbie, Michael S, Farlie, Peter G, Gordon, Christopher T, Harley, Vincent R, Hart, Adam H, Miller, Kerry A, Smyth, Ian M, Wallace, Megan J, Whittle, Belinda   +14 more
core   +1 more source

PROK2/PROKR2 Signaling and Kallmann Syndrome [PDF]

, 2013
Kallmann syndrome (KS) is a developmental disease that associates hypogonadism and a deficiency of the sense of smell. The reproductive phenotype of KS results from the primary interruption of the olfactory, vomeronasal, and terminal nerve fibers in the ...
Catherine Dodé, Philippe Rondard
core   +2 more sources

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide‐B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish

Birth Defects Research, Volume 116, Issue 11, November 2024.
ABSTRACT Background Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies.
Yukiko Hoshino, Shujie Liu, Toshiko Furutera, Takahiko Yamada, Daisuke Koyabu, Yuko Nukada, Masaaki Miyazawa, Tetsuya Yoda, Koichiro Ichimura, Sachiko Iseki, Junichi Tasaki, Masaki Takechi   +11 more
wiley   +1 more source

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle

Journal of Veterinary Internal Medicine, Volume 38, Issue 6, Page 3346-3357, November/December 2024.
Abstract Background Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half‐sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.
Joana G. P. Jacinto, Tolulope G. Ogundipe, Cinzia Benazzi, Irene M. Häfliger, Luisa V. Muscatello, Marilena Bolcato, Riccardo Rinnovati, Arcangelo Gentile, Cord Drögemüller   +8 more
wiley   +1 more source

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
Result: Suspected genetic variants were found to be significantly associated with clinical phenotypes. ABSTRACT Background This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants. Methods This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant
Qi Li, Yuzhu Zheng, Xinyuan Guo, Jiang Xue   +3 more
wiley   +1 more source

Long‐term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome

Developmental Medicine &Child Neurology, Volume 66, Issue 10, Page 1348-1360, October 2024.
Abstract Aim To describe the rates of stroke and craniocervical vasculopathy progression in children with posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACE) syndrome. Method A single‐center, retrospective natural history study of children with PHACE syndrome.
Moran Hausman‐Kedem, Elysa Widjaja, Ronan J. Vieira Neto, Elena Pope, Irene Lara‐Corrales, Nomazulu Dlamini, Daune Macgregor, Elizabeth Pulcine, Gabrielle Deveber, Mahendranath Moharir   +9 more
wiley   +1 more source

Shared genetic risk between major orofacial cleft phenotypes in an African population

Genetic Epidemiology, Volume 48, Issue 6, Page 258-269, September 2024.
Abstract Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%–80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Although NSCL/P and NSCPO are considered etiologically distinct, recent evidence suggests the presence of shared
Azeez Alade, Tabitha Peter, Tamara Busch, Waheed Awotoye, Deepti Anand, Oladayo Abimbola, Emmanuel Aladenika, Mojisola Olujitan, Oscar Rysavy, Phuong Fawng Nguyen, Thirona Naicker, Peter A. Mossey, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O'Rorke, Adebowale Adeyemo, Jeffrey C. Murray, Salil A. Lachke, Paul A. Romitti, Azeez Butali   +22 more
wiley   +1 more source

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe [PDF]

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies.
Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Bergman, Jorieke, Bianca, Sebastiano, Calzolari, Elisa, Dolk, Helen, Doray, Berenice, Garne, Ester, Khoshnood, Babak, Klungsoyr, Kari, Loane, Maria, McDonnell, Bob, Odak, Ljubica, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Scarano, Gioacchino, Tucker, David, Wellesley, Diana   +21 more
core   +1 more source

Frontonasal dysplasia associated with tetralogy of Fallot. [PDF]

Journal of Medical Genetics, 1987
Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face.
M M, De Moor, R, Baruch, D G, Human
openaire   +2 more sources

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype

American Journal of Medical Genetics Part A, Volume 194, Issue 5, May 2024.
Abstract Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra‐rare autosomal recessive condition with only few patients published to date. BRENS syndrome is characterized by hexadactyly, severe neonatal cholestasis, and involvement of the brain, heart, and kidney, however ...
Dzhoy Papingi, Tatjana Bierhals, Alexander E. Volk, Michael Kutsche, Kevin Paul, Theresia Herget   +5 more
wiley   +1 more source