American Journal of Medical Genetics Part A
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2.80
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9,734
Papers 9,670
1 page of 967 pages (9,670 results)
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#1Carole A. Samango-Sprouse (FIU: Florida International University)H-Index: 21
Last. Andrea L. Gropman (GWU: George Washington University)H-Index: 34
view all 8 authors...
49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. Due to the low incidence of this disorder, comprehensive studies analyzing the specific aspects of the speech and language phenotype in these boys have been uncommon. This is the first in-depth investigation of the speech and language profiles in a large cohort of boys with 49,XXXXY. Based on the clinical judgment of s...
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#1Andrea L. Gropman (GWU: George Washington University)H-Index: 34
#2Grace F. PorterH-Index: 4
Last. Carole A. Samango-Sprouse (FIU: Florida International University)H-Index: 21
view all 7 authors...
49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty-seven boys from infancy to 11 years of ...
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#1Christopher J. Conlon (BCM: Baylor College of Medicine)H-Index: 1
#2Amjed Abu-Ghname (BCM: Baylor College of Medicine)H-Index: 8
Last. Renata S. Maricevich (BCM: Baylor College of Medicine)H-Index: 8
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Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. Due to low prevalence and considerable phenotypic variability, it has been challenging to definitively characterize features of Robinow syndrome. While craniofacial abnormalities associated with Robinow syndrome have been broadly described, there is a lack of detailed descriptions of genotype-specific phenotypic craniofacial features. Patients with Robinow syndrome were invited for a multidisci...
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#1Amjed Abu-Ghname (BCM: Baylor College of Medicine)H-Index: 8
#2Jeffrey G. Trost (BCM: Baylor College of Medicine)H-Index: 8
Last. Renata S. Maricevich (BCM: Baylor College of Medicine)H-Index: 8
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Robinow syndrome, a rare genetic disorder, is characterized by skeletal dysplasia with, among other anomalies, extremity and hand anomalies. There is locus heterogeneity and both dominant and recessive inheritance. A detailed description of associated extremity and hand anomalies does not currently exist due to the rarity of this syndrome. This study seeks to document the hand anomalies present in Robinow syndrome to allow for improved rates of timely and accurate diagnosis. A focused assessment...
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#1Laura L. Tosi (GWU: George Washington University)H-Index: 14
Last. Carole A. Samango-Sprouse (FIU: Florida International University)H-Index: 21
view all 13 authors...
49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY over 10 years. Children were evaluated by a multidisciplinary team consisting of a pediatric orthopedist, a neurogeneticist, a neurodevelopmentalist, and two physical therapists. Increased rates of torticollis (32.4%), hamstring tightness (42%), rad...
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#1Chaofan Zhang (BCM: Baylor College of Medicine)H-Index: 3
#2Juliana F. Mazzeu (UnB: University of Brasília)H-Index: 11
Last. Claudia M.B. Carvalho (BCM: Baylor College of Medicine)H-Index: 42
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Robinow syndrome (RS) is a genetically heterogeneous disorder characterized by skeletal dysplasia and a distinctive facial appearance. Previous studies have revealed locus heterogeneity with rare variants in DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A underlying the etiology of RS. The aforementioned "Robinow-associated genes" and their gene products all play a role in the WNT/planar cell polarity signaling pathway. We performed gene-targeted Sanger sequencing, exome sequencing, genome sequencing, an...
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#1Carole A. Samango-Sprouse (FIU: Florida International University)H-Index: 21
Last. Andrea L. Gropman (GWU: George Washington University)H-Index: 34
view all 8 authors...
49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study reports on the neurological function and dysmorphic features in the largest cohort to date. Seventy-two boys with 49,XXXXY were evaluated on a variety of domains including a neurological examination and neuromotor assessments including the Beery Buktenica Developmental Test of Visual-Motor Integration, Sixth Edition, the Bayley Scales of Infant and Toddler Development, Third E...
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#1Jonathan A Gerber (UTMB: The University of Texas Medical Branch at Galveston)H-Index: 1
#2Kunj R. Sheth (SU: Stanford University)H-Index: 10
Last. Paul F. Austin (Boston Children's Hospital)H-Index: 27
view all 3 authors...
Robinow syndrome (RS) is a rare, pleiotropic genetic disorder. While it has been reported that males with Robinow syndrome may have genitourinary atypicalities, these have not been systematically studied. We hypothesized that the underlying gene involved plays a role in the clinical variability of associated genital findings and that the phenotypic appearance of the genitalia in RS may have a psychological impact. Urologic-specific examination consisted of detailed examination and a questionnair...
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#1David D. Schwartz (BCM: Baylor College of Medicine)H-Index: 8
#2Rachel H. Fein (BCM: Baylor College of Medicine)H-Index: 1
Last. Marni E. Axelrad (BCM: Baylor College of Medicine)H-Index: 15
view all 6 authors...
It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n = 5; WNT5A, n = 3), four had autosomal-recessive RS (NXN, n = 2; ROR2, n = 2), and ...
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#1Debra R. CountsH-Index: 1
#2Christine Yu (UC: University of Chicago)H-Index: 4
Last. Carole A. Samango-Sprouse (FIU: Florida International University)H-Index: 21
view all 6 authors...
49,XXXXY is an X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births. Previous case studies have described boys with this disorder to be shorter than average when compared with boys with only one extra chromosome and with the mean stature in a small cohort reported to range from the seventh to 33rd percentile. The origin behind the possible differences in height between boys with 47,XXY and 49,XXXXY is currently unknown, however one study hypothesized that it was due...
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