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George Thomas

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Nara L M Sobreira; George H Thomas; Michael Walsh; Sarah J Wheelan; Elizabeth Wohler; Veena Gnanakkan; Ada Hamosh; Julie E Hoover-Fong; Beth Marosy; David Valle
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Elisha D O Roberson; Elizabeth Squibb Wohler; Julie E Hoover-Fong; Emily Lisi; Eric L Stevens; George H Thomas; Jay Leonard; Ada Hamosh; Jonathan Pevsner
Genomic analysis of partial 21q monosomies with variable phenotypes.
Nara L M Sobreira; Elizabeth T Cirulli; Dimitrios Avramopoulos; Elizabeth Wohler; Gretchen L Oswald; Eric L Stevens; Dongliang Ge; Kevin V Shianna; Jason P Smith; Jessica M Maia; Curtis E Gumbs; Jonathan Pevsner; George H Thomas; David Valle; Julie E Hoover-Fong; David B Goldstein
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

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2011: Nara L M Sobreira; George H Thomas; Michael Walsh; Sarah J Wheelan; Elizabeth Wohler; Veena Gnanakkan; Ada Hamosh; Julie E Hoover-Fong; Beth Marosy; David Valle
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Genome research 2011;21(10):1720-7.
2011: Elisha D O Roberson; Elizabeth Squibb Wohler; Julie E Hoover-Fong; Emily Lisi; Eric L Stevens; George H Thomas; Jay Leonard; Ada Hamosh; Jonathan Pevsner
Genomic analysis of partial 21q monosomies with variable phenotypes.
European journal of human genetics : EJHG 2011;19(2):235-8.
2010: Nara L M Sobreira; Elizabeth T Cirulli; Dimitrios Avramopoulos; Elizabeth Wohler; Gretchen L Oswald; Eric L Stevens; Dongliang Ge; Kevin V Shianna; Jason P Smith; Jessica M Maia; Curtis E Gumbs; Jonathan Pevsner; George H Thomas; David Valle; Julie E Hoover-Fong; David B Goldstein
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS genetics 2010;6(6):e1000991.
2009: Nathaniel D Miller; Melonie A Nance; Elizabeth S Wohler; Julie E Hoover-Fong; Emily Lisi; George H Thomas; Jonathan Pevsner
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
American journal of medical genetics. Part A 2009;149A(4):669-80.
2009: Julie E Hoover-Fong; William J Savage; Emily Lisi; Jerry Winkelstein; George H Thomas; Lies Hoefsloot; David M Loeb
Congenital T cell deficiency in a patient with CHARGE syndrome.
The Journal of pediatrics 2009;154(1):140-2.
2008: Veronica Mardo; Elizabeth E Squibb; Nancy Braverman; Julie E Hoover-Fong; Claude J Migeon; Denise A S Batista; George H Thomas
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.
American journal of medical genetics. Part A 2008;146A(17):2293-7.
2008: Raluca Yonescu; Alexandra C Hristov; Aqeel Ahmad; Amy Overby; George H Thomas; Constance A Griffin
Cytogenetic characterization of natural killer cell leukemia.
Cancer genetics and cytogenetics 2008;183(2):125-30.
2008: Emily C Lisi; Ada Hamosh; Kimberly F Doheny; Elizabeth Squibb; Barbara Jackson; Rebecca Galczynski; George H Thomas; Denise A S Batista
3q29 interstitial microduplication: a new syndrome in a three-generation family.
American journal of medical genetics. Part A 2008;146A(5):601-9.
2008: Matthew J McGirt; Graeme Woodworth; Alexander L Coon; George H Thomas; Michael A. Williams; Daniele Rigamonti
Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus.
Neurosurgery 2008;62 Suppl 2():670-7.
2008: Michael A. Williams; George H Thomas; Barbara J de Lateur; Hejab Imteyaz; J Gregory Rose; Wendy S Shore; Siddharth Kharkar; Daniele Rigamonti
Objective assessment of gait in normal-pressure hydrocephalus.
American journal of physical medicine & rehabilitation / Association of Academic Physiatrists 2008;87(1):39-45.
2007: Jason C Ting; Elisha D O Roberson; Nathaniel D Miller; Alana Lysholm-Bernacchi; Dietrich A Stephan; George T Capone; Ingo Ruczinski; George H Thomas; Jonathan Pevsner
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
Human mutation 2007;28(12):1225-35.
2007: Michael A. Williams; Phoebe Sharkey; Doris van Doren; George H Thomas; Daniele Rigamonti
Influence of shunt surgery on healthcare expenditures of elderly fee-for-service Medicare beneficiaries with hydrocephalus.
Journal of neurosurgery 2007;107(1):21-8.
2007: Jorune Balciuniene; Ningping Feng; Kelly Iyadurai; Betsy Hirsch; Lawrence Charnas; Brent R Bill; Mathew C Easterday; Johan Staaf; Leann Oseth; Desiree Czapansky-Beilman; Dimitrios Avramopoulos; George H Thomas; Ake Borg; David Valle; Lisa A Schimmenti; Scott B Selleck
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
American journal of human genetics 2007;80(5):938-47.
2007: Allen S Mandir; Jennifer Hilfiker; George H Thomas; Robert E Minahan; Thomas O Crawford; Michael A. Williams; Daniele Rigamonti
Extrapyramidal signs in normal pressure hydrocephalus: an objective assessment.
Cerebrospinal fluid research 2007;4():7.
2007: Graeme Woodworth; Matthew J McGirt; George H Thomas; Michael A. Williams; Daniele Rigamonti
Prior CSF shunting increases the risk of endoscopic third ventriculostomy failure in the treatment of obstructive hydrocephalus in adults.
Neurological research 2007;29(1):27-31.
2006: Angelo M DeMarzo; Elizabeth A Platz; Jonathan I Epstein; Tehmina Z Ali; Anthanase Billis; Theresa Y Chan; Liang Cheng; Milton Datta; Lars Egevad; Dilek Ertoy-Baydar; Xavier Farre; Xavier Farree; Samson W Fine; Kenneth A Iczkowski; Michael Ittmann; Beatrice S Knudsen; Massimo Loda; Antonio Lopez-Beltran; Cristina Magi-Galluzzi; Gregor Mikuz; Roldolfo Montironi; Eli Pikarsky; Galina Pizov; Mark A Rubin; Hema Samaratunga; Thomas Sebo; Isabel A Sesterhenn; Rajal B Shah; Rajiv B Shah; Sabina Signoretti; Jeffery Simko; George H Thomas; Patricia Troncoso; Toyonori T Tsuzuki; Geert J van Leenders; Ximing J Yang; Ming Zhou; William D Figg; Ashraful Hoque; Ashrafal Hoque; M S Lucia
A working group classification of focal prostate atrophy lesions.
The American journal of surgical pathology 2006;30(10):1281-91.
2006: Bart Loeys; Ulrike Schwarze; Tammy M Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne De Paepe; Harry C Dietz
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
The New England journal of medicine 2006;355(8):788-98.
2006: Jason C Ting; Ying Ye; George H Thomas; Ingo Ruczinski; Jonathan Pevsner
Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
BMC bioinformatics 2006;7():25.
2005: Matthew J McGirt; Graeme Woodworth; Alexander L Coon; George H Thomas; Michael A. Williams; Daniele Rigamonti
Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus.
Neurosurgery 2005;57(4):699-705; discussion 699-705.
2005: Simeon Boyd; Sarah T South; Cristi L Radford; Ankita Patel; George Zhang; David J Hur; George H Thomas; John P Gearhart; Gail Stetten
A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.
Genomics 2005;85(5):622-9.
2005: George H Thomas; Matthew J McGirt; Graeme Woodworth; Jennifer Heidler; Daniele Rigamonti; ARGYE HILLIS-TRUPE; Michael A. Williams
Baseline neuropsychological profile and cognitive response to cerebrospinal fluid shunting for idiopathic normal pressure hydrocephalus.
Dementia and geriatric cognitive disorders 2005;20(2-3):163-8.
2004: Matthew J McGirt; Graeme Woodworth; George H Thomas; Neil R Miller; Michael A. Williams; Daniele Rigamonti
Cerebrospinal fluid shunt placement for pseudotumor cerebri-associated intractable headache: predictors of treatment response and an analysis of long-term outcomes.
Journal of neurosurgery 2004;101(4):627-32.
2004: M L Loscalzo; R L Galczynski; Ada Hamosh; Marshall Summar; Jeffrey M Chinsky; George H Thomas
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
American journal of medical genetics. Part A 2004;128A(3):311-5.
2003: Julie E Hoover-Fong; J Cai; Colyn B Cargile; George H Thomas; Ankita Patel; Constance A Griffin; Ethylin Jabs; Ada Hamosh
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.
American journal of medical genetics. Part A 2003;117A(1):47-56.
2003: Zuhair N Al-Hassnan; Simeon Boyd; V Praphanphoj; Ada Hamosh; Nancy Braverman; George H Thomas; Michael T Geraghty
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.
Journal of inherited metabolic disease 2003;26(1):89-91.
2002: Denise Li-Meng Goh; Ankita Patel; George H Thomas; Gajja S Salomons; D S M Schor; Cornelis Jakobs; Michael T Geraghty
Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).
Molecular genetics and metabolism 2002;76(3):172-80.
2002: Colyn B Cargile; Denise Li-Meng Goh; Barbara K Goodman; Xiao-Ning Chen; Julie R Korenberg; Gregg L Semenza; George H Thomas
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
American journal of medical genetics 2002;109(2):133-8.
2001: Julie E Hoover-Fong; Michael T Geraghty; Gerald V Raymond; George H Thomas
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.
Journal of inherited metabolic disease 2001;24(3):415-6.
2001: V Praphanphoj; Katherine A Sacksteder; Stephen J Gould; George H Thomas; Michael T Geraghty
Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene.
Molecular genetics and metabolism 2001;72(4):336-42.
2001: S Li; R J Couzi; George H Thomas; Alan D Friedman; Michael J Borowitz
A novel variant three-way translocation of inversion 16 in a case of AML-M4eo following low dose methotrexate therapy.
Cancer genetics and cytogenetics 2001;125(1):74-7.
2000: Barbara K Goodman; Julie Rutberg; Wei-Wen Lin; Ann E Pulver; George H Thomas
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.
Journal of inherited metabolic disease 2000;23(8):847-8.
2000: Colyn B Cargile; Iain McIntosh; MV Clough; Julie Rutberg; Reza Yaghmai; Barbara K Goodman; Xiao-Ning Chen; Julie R Korenberg; George H Thomas; Michael T Geraghty
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).
American journal of medical genetics 2000;92(5):328-35.
2000: V Praphanphoj; Barbara K Goodman; George H Thomas; K M Niel; C Toomes; M J Dixon; Michael T Geraghty
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Genomics 2000;65(1):67-9.
2000: V Praphanphoj; Barbara K Goodman; George H Thomas; Gerald V Raymond
Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
Journal of medical genetics 2000;37(1):58-61.
1999: S Sigurdardottir; Barbara K Goodman; Julie Rutberg; George H Thomas; Ethylin Jabs; Michael T Geraghty
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.
American journal of medical genetics 1999;87(5):384-90.
1997: Barbara K Goodman; George T Capone; J Hennessey; George H Thomas
Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.
American journal of medical genetics 1997;73(2):119-24.
1997: Kimberly F Doheny; H E McDermid; KH Harum; George H Thomas; Gerald V Raymond
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
Journal of medical genetics 1997;34(8):640-4.
1997: Kimberly F Doheny; S A Rasmussen; Julie Rutberg; Gregg L Semenza; J Stamberg; M Schwartz; Denise A S Batista; Gail Stetten; George H Thomas
Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.
American journal of medical genetics 1997;69(2):188-93.
1996: George H Thomas
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.
American journal of human genetics 1996;58(6):1364-8.
1995: Z X Zhang; N Wakamatsu; BR Akerman; E H Mules; George H Thomas; Roy A Gravel
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Human molecular genetics 1995;4(4):777-80.
1995: Barbara R Migeon; M A Dunn; George H Thomas; B J Schmeckpeper; Sakkubai Naidu
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.
American journal of human genetics 1995;56(3):647-53.
1994: George H Thomas
"Pseudodeficiencies" of lysosomal hydrolases.
American journal of human genetics 1994;54(6):934-40.
1994: Z X Zhang; N Wakamatsu; E H Mules; George H Thomas; Roy A Gravel
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Human molecular genetics 1994;3(1):139-45.
1993: Stylianos Antonarakis; Jean-Louis Blouin; J Maher; Dimitrios Avramopoulos; George H Thomas; C Conover Talbot
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.
American journal of human genetics 1993;52(6):1145-52.
1993: George H Thomas; B Thomas; S W Trachtenberg
Growing up with Patricia.
Pediatric clinics of North America 1993;40(3):675-83.
1992: E H Mules; Susan J Hayflick; C S Miller; L W Reynolds; George H Thomas
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
American journal of human genetics 1992;50(4):834-41.
1992: Arvind Kumar; T P Naidich; Gail Stetten; Allan L Reiss; H Wang; George H Thomas; O Hurko
Chromosomal disorders: background and neuroradiology.
AJNR. American journal of neuroradiology 1992;13(2):577-93.
1992: BR Akerman; J Zielenski; Barbara L Triggs-Raine; E M Prence; Marvin R Natowicz; J S Lim-Steele; M M Kaback; E H Mules; George H Thomas; Joe Clarke
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation 1992;1(4):303-9.
1992: E H Mules; Susan J Hayflick; C E Dowling; T E Kelly; BR Akerman; Roy A Gravel; George H Thomas
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Human mutation 1992;1(4):298-302.
1991: E H Mules; C E Dowling; M B Petersen; Haig Kazazian ; George H Thomas
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
American journal of human genetics 1991;48(6):1181-5.
1991: R Seppala; F Tietze; D Krasnewich; P Weiss; G Ashwell; G Barsh; George H Thomas; Seymour Packman; William A Gahl
Sialic acid metabolism in sialuria fibroblasts.
The Journal of biological chemistry 1991;266(12):7456-61.
1990: Ruth Navon; E H Kolodny; H Mitsumoto; George H Thomas; Richard L Proia
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
American journal of human genetics 1990;46(4):817-21.
1989: Mark L Batshaw; E W Naylor; George H Thomas
False positive alanine tolerance test results in heterozygote detection of urea cycle disorders.
The Journal of pediatrics 1989;115(4):595-8.
1989: George H Thomas; Jane R Scocca; C S Miller; L Reynolds
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.
Clinical genetics 1989;36(4):242-9.
1989: F Tietze; R Seppala; M Renlund; J J Hopwood; Gregory Harper; George H Thomas; William A Gahl
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
The Journal of biological chemistry 1989;264(26):15316-22.
1989: E H Mules; J R Testa; George H Thomas; H Abbey; B H Cohen
Cancer in relatives of leukemic patients with chromosomal rearrangements at rare (heritable) fragile-site locations in their malignant cells.
American journal of human genetics 1989;44(6):811-9.
1989: Manfred Gessler; George H Thomas; P Couillin; C Junien; B C McGillivray; M Hayden; G Jaschek; G A Bruns
A deletion map of the WAGR region on chromosome 11.
American journal of human genetics 1989;44(4):486-95.
1989: George H Thomas; C M Tuck-Muller; C S Miller; L W Reynolds
Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media.
Journal of inherited metabolic disease 1989;12(2):139-51.
1988: R J Wanders; Carlo W T van Roermund; M J van Wijland; R B Schutgens; J M Tager; H van den Bosch; George H Thomas
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.
Journal of inherited metabolic disease 1988;11 Suppl 2():161-4.
1987: Jane R Scocca; George H Thomas; C Miller; L Reynolds
Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis.
Journal of inherited metabolic disease 1987;10(1):33-47.
1986: Mark L Batshaw; S L Hyman; E D Mellits; George H Thomas; R DeMuro; Joseph T Coyle
Behavioral and neurotransmitter changes in the urease-infused rat: a model of congenital hyperammonemia.
Pediatric research 1986;20(12):1310-5.
1986: S L Hyman; Joseph T Coyle; J C Parke; C Porter; George H Thomas; W Jankel; Mark L Batshaw
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria.
The Journal of pediatrics 1986;108(5 Pt 1):705-9.
1986: J W Moore; S Hyman; S E Antonarakis; E H Mules; George H Thomas
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
Human genetics 1986;72(4):297-302.
1986: J Stamberg; George H Thomas
Unusual supernumerary chromosomes: types encountered in a referred population, and high incidence of associated maternal chromosome abnormalities.
Human genetics 1986;72(2):140-4.
1986: Jane R Scocca; George H Thomas; L Reynolds; C S Miller
Accumulation of [3H]sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine.
Journal of inherited metabolic disease 1986;9(1):79-88.
1986: J W Moore; C M Tuck-Muller; M Murphy; Sakkubai Naidu; George H Thomas
Chromosome studies in 10 patients with the Rett syndrome.
American journal of medical genetics. Supplement 1986;1():345-54.
1985: George H Thomas; Jane R Scocca; C S Miller; L W Reynolds
Accumulation of N-acetylneuraminic acid (sialic acid) in human fibroblasts cultured in the presence of N-acetylmannosamine.
Biochimica et biophysica acta 1985;846(1):37-43.
1985: George H Thomas; L W Reynolds; C S Miller
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.
Pediatric research 1985;19(5):451-5.
1985: G B Bolger; J Stamberg; I R Kirsch; G F Hollis; D F Schwarz; George H Thomas
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.
The New England journal of medicine 1985;312(9):564-7.
1984: Mark L Batshaw; R C Wachtel; George H Thomas; A Starrett; S W Brusilow
Arginine-responsive asymptomatic hyperammonemia in the premature infant.
The Journal of pediatrics 1984;105(1):86-91.
1984: Robert D Burk; David Valle; George H Thomas; C Miller; Ann B Moser; H Moser; K N Rosenbaum
Early manifestations of multiple sulfatase deficiency.
The Journal of pediatrics 1984;104(4):574-8.
1983: S J Hreidarsson; George H Thomas; H Kihara; A L Fluharty; E H Kolodny; H W Moser; L W Reynolds
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
Pediatric research 1983;17(9):701-4.
1983: S Hreidarsson; George H Thomas; David Valle; R E Stevenson; H Taylor; J McCarty; S B Coker; W Richard Green
Aspartylglucosaminuria in the United States.
Clinical genetics 1983;23(6):427-35.
1983: George H Thomas; Jane R Scocca; J Libert; E Vamos; C S Miller; L W Reynolds
Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.
Pediatric research 1983;17(5):307-12.
1982: R E Pyeritz; J Stamberg; George H Thomas; B B Bell; K G Zahka; B A Bernhardt
The marker Xq28 syndrome ("Fragile-X SYndrome") in a retarded man with mitral valve prolapse.
The Johns Hopkins medical journal 1982;151(5):231-7.
1982: M Tondeur; J Libert; E Vamos; F Van Hoof; George H Thomas; G Strecker
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.
European journal of pediatrics 1982;139(2):142-7.
1982: T R Montgomery; George H Thomas; David Valle
Mannosidosis in an adult.
The Johns Hopkins medical journal 1982;151(3):113-21.
1982: George H Thomas; C S Miller; K E Toomey; L W Reynolds; M L Reitman; A Varki; A Vannier; K N Rosebaum; W B Bias; B H Schofield
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.
American journal of human genetics 1982;34(4):611-22.
1982: George H Thomas; S Raghavan; E H Kolodny; A Frisch; E F Neufeld; J S O'Brien; L W Reynolds; C S Miller; J Shapiro; Haig Kazazian ; R H Heller
Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals.
Pediatric research 1982;16(3):232-7.
1981: G Shashidhar Pai; George H Thomas; P J Benke
Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.
Journal of medical genetics 1981;18(5):392-4.
1981: M L Batshaw; George H Thomas; S W Brusilow
New approaches to the diagnosis and treatment of inborn errors or urea synthesis.
Pediatrics 1981;68(2):290-7.
1981: M L Batshaw; M J Painter; G T Sproul; I A Schafer; George H Thomas; S Brusilow
Therapy of urea cycle enzymopathies: three case studies.
The Johns Hopkins medical journal 1981;148(1):34-40.
1980: G Shashidhar Pai; George H Thomas; W Mahoney; Barbara R Migeon
Complex chromosome rearrangements. Report of a new case and literature review.
Clinical genetics 1980;18(6):436-44.
1980: Arthur S Aylsworth; George H Thomas; J L Hood; N Malouf; J Libert
A severe infantile sialidosis: clinical, biochemical, and microscopic features.
The Journal of pediatrics 1980;96(4):662-8.
1980: David Valle; G G Pai; George H Thomas; R E Pyeritz
Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
The Johns Hopkins medical journal 1980;146(3):110-7.
1980: J E Trojak; C K Ho; R A Roesel; L S Levin; S E Kopits; George H Thomas; S Toma
Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase.
The Johns Hopkins medical journal 1980;146(2):75-9.
1980: G Shashidhar Pai; George H Thomas
A new R-banding technique in clinical cytogenetics.
Human genetics 1980;54(1):41-5.
1980: R W Myers; R T Lee; Y C Lee; George H Thomas; L W Reynolds; Y Uchida
The synthesis of 4-methylumbelliferyl alpha-ketoside of N-acetylneuraminic acid and its use in a fluorometric assay for neuraminidase.
Analytical biochemistry 1980;101(1):166-74.
1979: George H Thomas; Morton F Goldberg; C S Miller; L W Reynolds
Neuraminidase deficiency in the original patient with the Goldberg syndrome.
Clinical genetics 1979;16(5):323-30.
1979: T E Kelly; R H Haslam; George H Thomas
Partial trisomy 4q resulting from a familial 4/3 translocation.
Southern medical journal 1979;72(11):1459-61.
1979: G Shashidhar Pai; George H Thomas; C O Leonard; J C Ward; David Valle; R E Pyeritz
Syndromes due to chromosomal abnormalities: partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8.
The Johns Hopkins medical journal 1979;145(4):162-9.
1979: J A Phillips; Alan F Scott; Haig Kazazian ; Kirby D Smith; Gail Stetten; George H Thomas
Prenatal diagnosis of hemoglobinopathies by restriction endonuclease analysis: pregnancies at risk for sickle cell anemia and S--O Arab disease.
The Johns Hopkins medical journal 1979;145(2):57-60.
1979: J M Swint; J M Shapiro; VIRGINIA CORSON; L W Reynolds; George H Thomas; Haig Kazazian
The economic returns to community and hospital screening programs for a genetic disease.
Preventive medicine 1979;8(4):463-70.
1979: George H Thomas; L W Reynolds; C S Miller
Characterization of neuraminidase activity of cultured human fibroblasts.
Biochimica et biophysica acta 1979;568(1):39-48.
1978: George H Thomas; R E Tipton; L T Ch'ien; L W Reynolds; C S Miller
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.
Clinical genetics 1978;13(4):369-79.
1978: G Shashidhar Pai; David Valle; George H Thomas; K Rosenbaum
Cluster of trisomy 13 live births.
Lancet 1978;1(8064):613.
1976: S Milstien; N A Holtzman; M E O'Flynn; George H Thomas; I J Butler; S Kaufman
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
The Journal of pediatrics 1976;89(5):763-6.
1976: George H Thomas; G E Tiller; L W Reynolds; C S Miller; J W Bace
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
Biochemical and biophysical research communications 1976;71(1):188-95.
1976: Arthur S Aylsworth; H A Taylor; C M Stuart; George H Thomas
Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents.
The Journal of pediatrics 1976;88(5):814-8.
1975: George H Thomas; R H Haslam; M L Batshaw; A J Capute; L Neidengard; J L Ransom
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.
Clinical genetics 1975;8(5):376-82.
1975: T E Kelly; George H Thomas; H A Taylor; Victor A McKusick; W S Sly; J H Glaser; M Robinow; L Luzzatti; C Espiritu; M Feingold; M J Bull; E M Ashenhurst; E J Ives
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.
The Johns Hopkins medical journal 1975;137(4):156-75.
1975: H A Taylor; George H Thomas; Arthur S Aylsworth; R E Stevenson; L W Reynolds
Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts.
Clinica chimica acta; international journal of clinical chemistry 1975;59(1):93-9.
1975: T E Kelly; George H Thomas; H A Taylor; Victor A McKusick
Mucolipidosis III: clinical and laboratory findings.
Birth defects original article series 1975;11(6):295-9.
1974: George H Thomas; H A Taylor; C S Miller; J Axelman; Barbara R Migeon
Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.
Nature 1974;250(467):580-2.
1973: T E Kelly; George H Thomas; H A Taylor
Letter: Screening for mucolipidosis.
Lancet 1973;2(7837):1089.
1973: C M Moore; R H Heller; George H Thomas
Developmental abnormalities associated with a ring chromosome 6.
Journal of medical genetics 1973;10(3):299-303.
1973: George H Thomas; H A Taylor; L W Reynolds; C S Miller
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.
Pediatric research 1973;7(9):751-6.
1973: R H Haslam; S P Broske; C M Moore; George H Thomas; C A Neill
Trisomy 9 mosaicism with multiple congenital anomalies.
Journal of medical genetics 1973;10(2):180-4.
1973: K K Lie; George H Thomas; H A Taylor; J A Sensenbrenner
Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).
Clinica chimica acta; international journal of clinical chemistry 1973;45(3):243-8.
1973: H A Taylor; George H Thomas; C S Miller; T E Kelly; D Siggers
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells.
Clinical genetics 1973;4(5):388-97.
1972: George H Thomas; R Rodney Howell
Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy.
Clinica chimica acta; international journal of clinical chemistry 1972;36(1):99-103.
1971: M Kappelman; George H Thomas; R Rodney Howell
Histidinemia in a Negro child.
American journal of diseases of children (1960) 1971;122(3):212-4.
1971: George H Thomas; T H Parmley; R E Stevenson; R Rodney Howell
Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.
American journal of obstetrics and gynecology 1971;111(1):38-42.
1970: D Elliott; George H Thomas; C J Condron; N Khuri; F Richardson
C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.
American journal of diseases of children (1960) 1970;119(1):72-3.
1969: George H Thomas; W B Bias
Occurrence of a presumptive C-B translocation carrier [46,XY,t (? Cp-; Bp+)] in a family of D-G translocation carriers [45,D-,G-,t (DqGq)+].
Journal of medical genetics 1969;6(4):382-7.