Authors:
ROBINSON WP
KUCHINKA BD
BERNASCONI F
PETERSEN MB
SCHULZE A
BRONDUMNIELSEN K
CHRISTIAN SL
LEDBETTER DH
SCHINZEL AA
HORSTHEMKE B
SCHUFFENHAUER S
MICHAELIS RC
LANGLOIS S
HASSOLD TJ
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Authors:
KULHARYA AS
MICHAELIS RC
NORRIS KS
TAYLOR HA
GARCIAHERAS J
Citation: As. Kulharya et al., CONSTITUTIONAL DEL(19)(Q12Q13.1) IN A 3-YEAR-OLD GIRL WITH SEVERE PHENOTYPIC ABNORMALITIES AFFECTING MULTIPLE ORGAN SYSTEMS, American journal of medical genetics, 77(5), 1998, pp. 391-394
Authors:
SCHROER RJ
PHELAN MC
MICHAELIS RC
CRAWFORD EC
SKINNER SA
CUCCARO M
SIMENSEN RJ
BISHOP J
SKINNER C
FENDER D
STEVENSON RE
Citation: Rj. Schroer et al., AUTISM AND MATERNALLY DERIVED ABERRATIONS OF CHROMOSOME 15Q, American journal of medical genetics, 76(4), 1998, pp. 327-336
Authors:
MICHAELIS RC
VELAGALETI GVN
JONES C
PIVNICK EK
PHELAN MC
BOYD E
TARLETON J
WILROY RS
TUNNACLIFFE A
THARAPEL AT
Citation: Rc. Michaelis et al., MOST JACOBSEN-SYNDROME DELETION BREAKPOINTS OCCUR DISTAL TO FRA11B, American journal of medical genetics, 76(3), 1998, pp. 222-228
Authors:
ROBINSON WP
DUTLY F
NICHOLLS RD
BERNASCONI F
PENAHERRERA M
MICHAELIS RC
ABELIOVICH D
SCHINZEL AA
Citation: Wp. Robinson et al., THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13, Journal of Medical Genetics, 35(2), 1998, pp. 130-136
Citation: Rc. Michaelis et al., THE SITE OF A MISSENSE MUTATION IN THE EXTRACELLULAR IG OR FN DOMAINSOF L1CAM INFLUENCES INFANT-MORTALITY AND THE SEVERITY OF X-LINKED HYDROCEPHALUS, Journal of Medical Genetics, 35(11), 1998, pp. 901-904
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MICHAELIS RC
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PHELAN MC
Citation: Rc. Michaelis et al., INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM, American journal of medical genetics, 71(3), 1997, pp. 298-304
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RAJANGAM S
MICHAELIS RC
VELAGALETI GVN
LINCOLN S
HEGDE S
LEWIN S
TARLETON J
THOMAS IM
THARAPEL AT
Citation: S. Rajangam et al., DOWN-SYNDROME WITH BIPARENTAL INHERITANCE OF DER(14Q21Q) AND MATERNALLY DERIVED TRISOMY-21 - CONFIRMATION BY FLUORESCENT IN-SITU HYBRIDIZATION AND MICROSATELLITE POLYMORPHISM ANALYSIS, American journal of medical genetics, 70(1), 1997, pp. 43-47
Authors:
WILLI SM
ZHANG YZ
HILL JB
PHELAN MC
MICHAELIS RC
HOLDEN KR
Citation: Sm. Willi et al., A DELETION IN THE LONG ARM OF CHROMOSOME-18 IN A CHILD WITH SERUM CARNOSINASE DEFICIENCY, Pediatric research, 41(2), 1997, pp. 210-213
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KUCHINKA BD
HASSOLD TJ
HORSTHEMKE B
LANGLOIS S
LEDBETTER DH
MICHAELIS RC
SCHINZEL A
SCHUFFENHAUER S
ROBINSON WP
Citation: Bd. Kuchinka et al., MATERNAL AGE AND RECOMBINATION DISTRIBUTION ASSOCIATED WITH CHROMOSOME-15 NONDISJUNCTION, American journal of human genetics, 61(4), 1997, pp. 263-263
Authors:
KULHARYA AS
GARCIAHERAS J
MAMUNES P
NORRIS KS
MICHAELIS RC
Citation: As. Kulharya et al., FIRST REPORT OF A CONSTITUTIONAL DELETION IN 19Q - CYTOGENETIC AND MOLECULAR ANALYSIS FOR FINE DEFINITION OF THE DELETION BREAKPOINTS WITH A 3 YEAR FOLLOW-UP, American journal of human genetics, 61(4), 1997, pp. 889-889
Citation: Rc. Michaelis et al., SITE OF POINT MUTATION IN L1CAM CORRELATES WITH SEVERITY OF HYDROCEPHALUS, ADDUCTED THUMBS AND SURVIVAL, American journal of human genetics, 61(4), 1997, pp. 907-907
Authors:
ROBINSON WP
LANGLOIS S
SCHUFFENHAUER S
HORSTHEMKE B
MICHAELIS RC
CHRISTIAN S
LEDBETTER DH
SCHINZEL A
Citation: Wp. Robinson et al., CYTOGENETIC AND AGE-DEPENDENT RISK-FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY-15, Prenatal diagnosis, 16(9), 1996, pp. 837-844
Authors:
MICHAELIS RC
TARLETON J
RICHTER B
STEVENSON RE
DONAHUE RP
HAUN R
QUINTELA N
PHELAN MC
Citation: Rc. Michaelis et al., UNUSUAL CHROMOSOMAL REARRANGEMENTS IN 2 PATIENTS WITH FEATURES OF PRADER-WILLI-SYNDROME, American journal of medical genetics, 62(3), 1996, pp. 5-5
Authors:
PHELAN MC
MICHAELIS RC
TARLETON JC
DONLON TA
SKINNER SA
Citation: Mc. Phelan et al., DELETION OF 15Q11-]Q13 IN A MOTHER AND SON WITHOUT FEATURES OF PRADER-WILLI OR ANGELMAN SYNDROME, Cytogenetics and cell genetics, 69(1-2), 1995, pp. 116-116
Authors:
MICHAELIS RC
SKINNER SA
LETHCO BA
SIMENSEN RJ
DONLON TA
TARLETON J
PHELAN MC
Citation: Rc. Michaelis et al., DELETION INVOLVING D15S113 IN A MOTHER AND SON WITHOUT ANGELMAN-SYNDROME - REFINEMENT OF THE ANGELMAN-SYNDROME CRITICAL DELETION REGION, American journal of medical genetics, 55(1), 1995, pp. 120-126
Authors:
MICHAELIS RC
PIVNICK EK
GOPALRAO VVN
WILROY RS
TARLETON J
PATIL SR
THARAPEL AT
Citation: Rc. Michaelis et al., DEFINING THE PRECISE BREAKPOINTS IN DEL(11Q) BY MICROSATELLITE POLYMORPHISM AND IN-SITU HYBRIDIZATION (ISH), American journal of human genetics, 57(4), 1995, pp. 675-675
Authors:
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MICHAELIS RC
THOMAS IM
LINCOLN S
HEGDE S
LEWIN S
TARLETON J
THARAPEL AT
Citation: S. Rajangam et al., DOWN-SYNDROME (DS) WITH HOMOZYGOUS T(14Q21Q) AND NONDISJUNCTION TRISOMY-21 - ASSIGNMENT OF BIPARENTAL ORIGIN OF T(14Q21) CHROMOSOMES AND MATERNAL ORIGIN OF THE EXTRA 21 BY MICROSATELLITE POLYMORPHISM, American journal of human genetics, 57(4), 1995, pp. 691-691