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51

“New syndromes,” part II: “European” syndromes

Dr. Frits A. Beemer, John M. Opitz, James F. Reynolds, Robert J. Gorlin

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 880 KB

english, 1988

52

VACTERL and hydrocephalus

Frits A. Beemer, Ronald J. A. Wanders, Ruud B. J. Schutgens

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 98 KB

english, 1990

53

Association of distal arthrogryposis, mental retardation, whistling face, and pierre robin sequence: Evidence for nosologic heterogeneity

Constance Schrander-Stumpel, Jean Pierre Fryns, Frits A. Beemer, Frans A. Rive

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 497 KB

english, 1991

54

Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: A second case of the AREDYLD syndrome

E. J. Breslau-Siderius, J. Toonstra, J. A. Baart, H. P. F. Koppeschaar, J. A. Maassen, Dr. F. A. Beemer

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 419 KB

english, 1992

55

Additional case of opsismodysplasia supporting autosomal recessive inheritance

Frits A. Beemer, Kazimierz S. Kozlowski

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 316 KB

english, 1994

56

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

Dr. Wim J. Kleijer, Frits A. Beemer, Bart W. Boom

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 431 KB

english, 1994

57

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

Tom J. de Koning, Lodewijk A. Sandkuijl, Jan E. A. R. de Schryver, Eric A. M. Hennekam, Frits A. Beemer, Dr. Roderick H. J. Houwen

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 404 KB

english, 1995

58

Successful carnitine therapy for Raynaud's phenomenon in velo-cardio-facial syndrome

Rob Rodrigues Pereira, Carla M. van Ede, Frits A. Beemer

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 30 KB

english, 2003

59

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders, Bwee Tien Poll-The

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

60

Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype

K.D. Lichtenbelt, R. Hochstenbach, W.M. van Dam, M.J. Eleveld, M. Poot, F.A. Beemer

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

61

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

Hester Y. Kroes, Rutger-Jan A.J. Nievelstein, Peter G. Barth, Peter G.J. Nikkels, Carsten Bergmann, Rob H.J.M. Gooskens, Gepke Visser, Hans-Kristian Ploos van Amstel, Frits A. Beemer

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 174 KB

english, 2005

62

Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences

Arwen H. Pieterse, Margreet G.E.M. Ausems, Alexandra M. Van Dulmen, Frits A. Beemer, Jozien M. Bensing

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 101 KB

english, 2005

63

Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: A matched control study

P.W. Jansen, S.N. Duijff, F.A. Beemer, J.A.S. Vorstman, P.W.J. Klaassen, M.E.J. Morcus, J.A. Heineman-de Boer

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

64

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome

Jacob A.S. Vorstman, Eva W. Chow, Roel A. Ophoff, Herman van Engeland, Frits A. Beemer, René S. Kahn, Richard J. Sinke, Anne S. Bassett

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 201 KB

english, 2009

65

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Br

Journal:

Year:

2011

Language:

english

File:

PDF, 611 KB

english, 2011

66

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

Annemarie H. van der Hout, Edwin Verlind, Frits A. Beemer, Charles H.C.M. Buys, Robert M.W. Hofstra, Hans Scheffer

Journal:

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

67

Non-ocular cancer in patients with hereditary retinoblastoma and their relatives

D. J. Derkinderen, J. W. Koten, N. J. D. Nagelkerke, K. E. W. P. Tan, F. A. Beemer, W. Den Otter

Journal:

International Journal of Cancer

Year:

1988

Language:

english

File:

PDF, 665 KB

english, 1988

68

Early diagnosis of bilateral retinoblastoma reduces death and blindness

D. J. Derkinderen, J. W. Koten, L. K. J. Van Romunde, N. J. D. Nagelkerke, K. E. W. P. Tan, F. A. Beemer, W. Den Otter

Journal:

International Journal of Cancer

Year:

1989

Language:

english

File:

PDF, 551 KB

english, 1989

69

Use of NMR imaging to measure interfacial properties of asphalts

F.P. Miknis, A.T. Pauli, A. Beemer, B. Wilde

Journal:

Year:

2005

Language:

english

File:

PDF, 356 KB

english, 2005

70

Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism?

C. van der Heiden, F.A. Beemer, W. Brink, S.K. Wadman, M. Duran

Journal:

Clinical Biochemistry

Year:

1979

Language:

english

File:

PDF, 316 KB

english, 1979

71

Identification of genotypes of carrier variants with diminished activity of galactose-1-phosphate uridyltransferase

C. Van Der Heiden, J. Desplanque, F.A. Beemer, J.B.C. De Klerk, F.J. Van Sprang

Journal:

Clinical Biochemistry

Year:

1983

Language:

english

File:

PDF, 292 KB

english, 1983

72

Simple high-performance liquid chromatographic method for the analysis of the non-depolarizing neuromuscular blocking drugs in clinical anaesthesia

Andrew R. Bjorksten, Geoff H. Beemer, David P. Crankshaw

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1990

Language:

english

File:

PDF, 446 KB

english, 1990

73

Psychological risks of genetically testing children for a hereditary cancer syndrome

F.J.M. Grosfeld, C.J.M. Lips, F.A. Beemer, H.G. van Spijker, G.J. Brouwers-Smalbraak, H.F.J. ten Kroode

Journal:

Patient Education and Counseling

Year:

1997

Language:

english

File:

PDF, 72 KB

english, 1997

74

Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias

H. J. Schelhaas, P. F. Ippel, F. A. Beemer, G. Hageman

Journal:

European Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 216 KB

english, 2000

75

The in-vitro activity of various sulphonamides on Bact. dysenteriæ

A. M. A. Beemer, R. W. Fairbrother

Journal:

The Journal of Pathology

Year:

1944

Language:

english

File:

PDF, 230 KB

english, 1944

76

Candida albicans infection of the gut

A. M. Beemer, D. M. Pryce, R. W. Riddell

Journal:

The Journal of Pathology

Year:

1954

Language:

english

File:

PDF, 700 KB

english, 1954

77

Failure to detect fetal obstructive uropathy by second trimester ultrasound

J. W. Wladimiroff, F. A. Beemer, R. J. Scholtmeyer, P. A. Stewart, R. Spritzer, E. D. Wolff

Journal:

Prenatal Diagnosis

Year:

1985

Language:

english

File:

PDF, 456 KB

english, 1985

78

Restrictive dermopathy and fetal behaviour

E. J. H. Mulder, F. A. Beemer, Ph. Stoutenbeek

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

79

QUOTE-geneca: development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer

Arwen Pieterse, Sandra van Dulmen, Margreet Ausems, Angela Schoemaker, Frits Beemer, Jozien Bensing

Journal:

Psycho-Oncology

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

80

Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

E. J. Breslau-Siderius, J. Th. Wijnen, J. G. Dauwerse, J. M. Pater, F. A. Beemer, P. Meera Khan

Journal:

Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

81

Fibroblasts from a leprechaun patient have defects in insulin binding and insulin receptor autophosphorvlation

J. A. Maassen, M. P. Klinkhamer, G. C. M. van der Zon, H. Sips, W. Möller, H. M. J. Krans, D. Lindhout, F. A. Beemer

Journal:

Year:

1988

Language:

english

File:

PDF, 744 KB

english, 1988

82

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

Gert Rijksen, Gerard E. J. Staal, Margreet J. M. Vlist, Frits A. Beemer, Jaap Troost, Wolf Gutensohn, Jan P. R. M. Laarhoven, Chris H. M. M. Bruyn

Journal:

Year:

1981

Language:

english

File:

PDF, 919 KB

english, 1981

83

Ring chromosome 2: Clinical, chromosomal, and biochemical aspects

M. Jansen, F. A. Beemer, C. Heiden, J. O. Hemel, J. L. Brande

Journal:

Year:

1982

Language:

english

File:

PDF, 685 KB

english, 1982

84

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

K. M. Gibson, W. L. Nyhan, L. Sweetman, K. Narisawa, W. Lehnert, P. Divry, B. H. Robinson, K. S. Roth, F. A. Beemer, F. J. Sprang, M. Duran, S. K. Wadman, B. Cartigny

Journal:

European Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 816 KB

english, 1988

85

The Aase syndrome

N. Muis, F. A. Beemer, P. Dijken, J. M. Klep-de Pater

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 671 KB

english, 1986

86

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs

F. A. Beemer, K. Bartlett, M. Duran, H. K. Ghneim, S. K. Wadman, L. Bruinvis, D. Ketting

Journal:

European Journal of Pediatrics

Year:

1982

Language:

english

File:

PDF, 476 KB

english, 1982

87

The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II)

J. W. E. Oorthuys, F. A. Beemer

Journal:

European Journal of Pediatrics

Year:

1979

Language:

english

File:

PDF, 628 KB

english, 1979

88

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

J. Jaeken, S. K. Wadman, M. Duran, F. J. Sprang, F. A. Beemer, R. A. Holl, P. M. Theunissen, P. Cock, F. Bergh, M. F. Vincent, G. Berghe

Journal:

European Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 645 KB

english, 1988

89

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases

J. M. Wit, F. A. Beemer, P. G. Barth, J. W. E. Oorthuys, P. F. Dijkstra, J. L. Brande, N. J. Leschot

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 2.16 MB

english, 1985

90

Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase

P. G. Barth, F. A. Beemer, B. P. Cats, M. Duran, S. K. Wadman

Journal:

Virchows Archiv

Year:

1985

Language:

english

File:

PDF, 164 KB

english, 1985

91

Mild variant of argininosuccinic aciduria

R. B. H. Schutgens, F. A. Beemer, W. H. H. Tegelaers, W. P. de Groot

Journal:

Journal of Inherited Metabolic Disease

Year:

1979

Language:

english

File:

PDF, 224 KB

english, 1979

92

Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

M. Duran, F. A. Beemer, C. v. d. Heiden, J. Korteland, P. K. de Bree, M. Brink, S. K. Wadman, I. Lombeck

Journal:

Journal of Inherited Metabolic Disease

Year:

1978

Language:

english

File:

PDF, 456 KB

english, 1978

93

Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

S. K. Wadman, M. Duran, F. A. Beemer, B. P. Cats, J. L. Johnson, K. V. Rajagopalan, J. M. Saudubray, H. Ogier, C. Charpentier, R. Berger, G. P. A. Smit, J. Wilson, S. Krywawych

Journal:

Journal of Inherited Metabolic Disease

Year:

1983

Language:

english

File:

PDF, 856 KB

english, 1983

94

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

S. K. Wadman, R. Berger, M. Duran, P. K. de Bree, S. A. Stoker-de Vries, F. A. Beemer, J. J. Weits-Binnerts, T. J. Penders, J. K. van der Woude

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 248 KB

english, 1985

95

Salla disease variant in a Dutch patient

G. M. S. Mancini, P. Hu, F. W. Verheijen, O. P. van Diggelen, H. C. Janse, W. J. Kleijer, F. A. Beemer, F. G. I. Jennekens

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.07 MB

english, 1992

96

Partial HGPRT-deficiency in a patient with the Lesch-Nyhan syndrome: Evidence for a structural mutation affecting the PRPP binding site

G. Rijksen, G. E. J. Staal, M. J. M. van der Vlist, F. A. Beemer, J. Troost, J. P. R. M. van Laarhoven, C. H. M. M. de Bruyn

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 193 KB

english, 1981

97

The velo-cardio-facial (Shprintzen) syndrome

P. Meinecke, F. A. Beemer, A. Schinzel, T. Kushnick

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 1.76 MB

english, 1986

98

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

J. A. M. Smeitink, F. A. Beemer, M. Espeel, R. A. M. G. Donckerwocke, C. Jakobs, R. J. A. Wanders, R. B. H. Schutgens, F. Roels, M. Duran, L. Dorland, R. Berger, B. T. Poll-The

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 222 KB

english, 1992

99

Gegeneraliseerde soepelheid en stijfheid van gewrichten op de kinderleeftijd; klinische presentatie en differentiaaldiagnostiek

R. H. H. Engelbert, F. A. Beemer

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2003

Language:

dutch

File:

PDF, 94 KB

dutch, 2003

100

Knee radiography in the diagnosis of skeletal dysplasias

Thomas C. Kwee, Frits A. Beemer, Frederik J. A. Beek, Rutger A. J. Nievelstein

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 509 KB

english, 2006