Results 211 to 220 of about 45,424 (315)

PERINATAL OUTCOME OF INBORN INFANTS BORN AT 24 TO 26 WEEKS GESTATION BETWEEN 1/1990 & 12/1994. † 1312 [PDF]

, 1996
Sarah J. Kilpatrick, Mureen A Schlueter, Robert E. Piecuch, Augusto Sola   +3 more
openalex   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan. [PDF]

Kobe J Med Sci
Hong S, Iketani K, Sonehara S, Hanafusa H, Nambu Y, Nozu K, Awano H, Bo R.   +7 more
europepmc   +1 more source

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism [PDF]

, 2000
Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek   +6 more
openalex   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Correction to: Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells. [PDF]

Virchows Arch
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, Magner M, Sikora J.   +7 more
europepmc   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Chronic inborn erythrocytosis leads to cardiac dysfunction and premature death in mice overexpressing erythropoietin [PDF]

, 2001
Klaus Wagner, Dörthe M. Katschinski, Jo Hasegawa, Dunja Schumacher, Birgit Meller, U. Gembruch, Uda Schramm, Wolfgang Jelkmann, Max Gassmann, Joachim Fandrey   +9 more
openalex   +1 more source

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

American Journal of Medical Genetics Part A, EarlyView.
Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi   +6 more
wiley   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
wiley   +1 more source