Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

T Eggermann; S Mergenthaler; K Eggermann; A Albers; K Linnemann; Christoph Fusch; M B Ranke; H A Wollmann

doi:10.1136/jmg.38.2.86

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

T Eggermann, S Mergenthaler, K Eggermann, A Albers, K Linnemann, Christoph Fusch (Co-author), M B Ranke, H A Wollmann

Research output: Contribution to journal › Original Article › peer-review

65 Citations (Web of Science)

Original language	English
Pages (from-to)	86-89
Journal	JOURNAL OF MEDICAL GENETICS
Volume	38
Issue number	2
DOIs	https://doi.org/10.1136/jmg.38.2.86
Publication status	Published - 2001

Keywords

SILVER-RUSSELL-SYNDROME
RETARDATION
CHROMOSOME-14
HUMANS
ISODISOMY
CHILD
MAP

Access to Document

10.1136/jmg.38.2.86

Cite this

Eggermann, T., Mergenthaler, S., Eggermann, K., Albers, A., Linnemann, K., Fusch, C., Ranke, M. B., & Wollmann, H. A. (2001). Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. JOURNAL OF MEDICAL GENETICS , 38(2), 86-89. https://doi.org/10.1136/jmg.38.2.86

Eggermann, T ; Mergenthaler, S ; Eggermann, K et al. / Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. In: JOURNAL OF MEDICAL GENETICS 2001 ; Vol. 38, No. 2. pp. 86-89.

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title = "Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.",

keywords = "SILVER-RUSSELL-SYNDROME, RETARDATION, CHROMOSOME-14, HUMANS, ISODISOMY, CHILD, MAP",

author = "T Eggermann and S Mergenthaler and K Eggermann and A Albers and K Linnemann and Christoph Fusch and Ranke, \{M B\} and Wollmann, \{H A\}",

year = "2001",

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language = "English",

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pages = "86--89",

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Eggermann, T, Mergenthaler, S, Eggermann, K, Albers, A, Linnemann, K, Fusch, C, Ranke, MB & Wollmann, HA 2001, 'Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.', JOURNAL OF MEDICAL GENETICS , vol. 38, no. 2, pp. 86-89. https://doi.org/10.1136/jmg.38.2.86

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. / Eggermann, T; Mergenthaler, S; Eggermann, K et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 38, No. 2, 2001, p. 86-89.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

AU - Eggermann, T

AU - Mergenthaler, S

AU - Eggermann, K

AU - Albers, A

AU - Linnemann, K

AU - Fusch, Christoph

AU - Ranke, M B

AU - Wollmann, H A

PY - 2001

Y1 - 2001

KW - SILVER-RUSSELL-SYNDROME

KW - RETARDATION

KW - CHROMOSOME-14

KW - HUMANS

KW - ISODISOMY

KW - CHILD

KW - MAP

U2 - 10.1136/jmg.38.2.86

DO - 10.1136/jmg.38.2.86

M3 - Original Article

C2 - 11158171

SN - 0022-2593

VL - 38

SP - 86

EP - 89

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 2

ER -

Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C et al. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. JOURNAL OF MEDICAL GENETICS . 2001;38(2):86-89. doi: 10.1136/jmg.38.2.86