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Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

American journal of human genetics, 1999-07, Vol.65 (1), p.111-124

1999

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Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

European journal of human genetics : EJHG, 1998-05, Vol.6 (3), p.213-225

1998

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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

Human molecular genetics, 2001-02, Vol.10 (3), p.201-210

2001

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Quantitative studies on the arrangement of human metaphase chromosomes

Cytogenetic and genome research, 1968, Vol.7 (6), p.455-470

1968

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De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis

Clinical genetics, 1997-01, Vol.51 (1), p.56-60

1997

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Untersuchungen ber die Anordnung der menschlichen Metaphasechromsomen: III. Das Assoziationsmuster akrozentrischer Chromosomen bei M ttern mongoloider Kinder und bei Vergleichspersonen

Human genetics, 1969, Vol.8 (1)

1969

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De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Clinical genetics, 1994-06, Vol.45 (6), p.301-304

1994

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A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome

Clinical genetics, 1993-06, Vol.43 (6), p.318-320

1993

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Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis

Human genetics, 1987-08, Vol.76 (4), p.332-336

1987

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Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome

Clinical genetics, 1992-10, Vol.42 (4), p.201-205

1992

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Genetic counseling in families with inherited balanced translocations: experience with 36 families

Clinical genetics, 1989-06, Vol.35 (6), p.404-416

1989

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Quantitative studies on the arrangement of human metaphase chromosomes

Cytogenetic and genome research, 1969-04, Vol.8 (4), p.304-314

1969

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Deletion 11q23.3 without familial predisposition

Human genetics, 1988-10, Vol.80 (2), p.205-205

1988

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Trisomy 22 in a newborn with multiple malformations

Human genetics, 1987-07, Vol.76 (3), p.298-301

1987

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Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

Human genetics, 1981-08, Vol.58 (2), p.221-225

1981

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Familial pericentric inversion of chromosome 12

Human genetics, 1986-04, Vol.72 (4), p.320-322

1986

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Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations

Clinical genetics, 1978-02, Vol.13 (2), p.159-163

1978

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INDIVIDUAL SATELLITE-ASSOCIATION PATTERNS

The Lancet (British edition), 1967-12, Vol.290 (7531), p.1423-1423

1967

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Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship

Human genetics, 1978-01, Vol.41 (1), p.11-17

1978

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Quantitative studies on the arrangement of human metaphase chromosomes. I. Individual features in the association pattern of the acrocentric chromosomes of normal males and females

Cytogenetics, 1968, Vol.7 (6), p.455

1968

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Prader-Willi-like phenotype and the proximal long arm of the X chromosome

American journal of medical genetics, 1998-11, Vol.80 (3), p.300-301

1998

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The chaperone αB-crystallin uses different interfaces to capture an amorphous and an amyloid client

Nature structural & molecular biology, 2015-11, Vol.22 (11), p.898-905

2015

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Development and Validation of the Revised Multicultural Ideology Scale in Germany and Luxembourg

Psychological reports, 2023-02, Vol.126 (1), p.477-501

2023

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Iohexol plasma clearance for measuring glomerular filtration rate in clinical practice and research: a review. Part 1: How to measure glomerular filtration rate with iohexol?

Clinical kidney journal, 2016-10, Vol.9 (5), p.682-699

2016

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Lung ultrasound in acute and chronic heart failure: a clinical consensus statement of the European Association of Cardiovascular Imaging (EACVI)

European heart journal cardiovascular imaging, 2023-11, Vol.24 (12), p.1569-1582

2023

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Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

Quantitative studies on the arrangement of human metaphase chromosomes

De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis

Untersuchungen ber die Anordnung der menschlichen Metaphasechromsomen: III. Das Assoziationsmuster akrozentrischer Chromosomen bei M ttern mongoloider Kinder und bei Vergleichspersonen

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome

Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis

Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome

Genetic counseling in families with inherited balanced translocations: experience with 36 families

Quantitative studies on the arrangement of human metaphase chromosomes

Deletion 11q23.3 without familial predisposition

Trisomy 22 in a newborn with multiple malformations

Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

Familial pericentric inversion of chromosome 12

Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations

INDIVIDUAL SATELLITE-ASSOCIATION PATTERNS

Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship

Quantitative studies on the arrangement of human metaphase chromosomes. I. Individual features in the association pattern of the acrocentric chromosomes of normal males and females

Prader-Willi-like phenotype and the proximal long arm of the X chromosome

The chaperone αB-crystallin uses different interfaces to capture an amorphous and an amyloid client

Development and Validation of the Revised Multicultural Ideology Scale in Germany and Luxembourg

Iohexol plasma clearance for measuring glomerular filtration rate in clinical practice and research: a review. Part 1: How to measure glomerular filtration rate with iohexol?

Lung ultrasound in acute and chronic heart failure: a clinical consensus statement of the European Association of Cardiovascular Imaging (EACVI)

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