Results 101 to 110 of about 27,794 (295)

Application of chromosome banding techniques to the study of primary chromosome structural changes. [PDF]

, 1977
John R. K. Savage
openalex   +1 more source

Chromosome banding. [PDF]

Journal of Histochemistry & Cytochemistry, 1975
openaire   +2 more sources

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Chromosome banding. [PDF]

BMJ, 1972
openaire   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Cytogenetical analyses in three fish species of the genus Pimelodus(Siluriformes: Pimelodidae) from rio São Francisco: considerations about the karyotypical evolution in the genus

Neotropical Ichthyology
Karyotypes and other chromosomal markers were investigated in three species of the catfish genus Pimelodus, namely P. fur, P. maculatus and Pimelodus sp., from municipality of Três Marias, Minas Gerais, Brazil, using differential staining techniques (C ...
Caroline Garcia, Orlando Moreira Filho
doaj   +1 more source

On the vesiculation of bands in salivary gland chromosomes induced by physiological treatments I

, 1959
義一 木本
openalex   +2 more sources

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

CONCOMITANT ‘C’ AND ‘G’ BANDS IN HUMAN CHROMOSOMES [PDF]

, 1974
C L Y Lee, John P. Welch, Richard B. Goldbloom   +2 more
openalex   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source