A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1821 ◽

2021 ◽

Author(s):

Alyssa C. M. Joynt ◽

Ashish R. Deshwar ◽

Jessica Zon ◽

Lucie Dupuis ◽

Diane K. Wherrett ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Deficiency ◽

Unbalanced Translocation ◽

Brain Anomalies

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Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2007.06.004 ◽

2007 ◽

Vol 50 (6) ◽

pp. 455-464 ◽

Cited By ~ 9

Author(s):

P. Callier ◽

L. Faivre ◽

N. Marle ◽

C. Thauvin-Robinet ◽

A.L. Mosca ◽

...

Keyword(s):

Growth Hormone ◽

Mental Retardation ◽

Growth Hormone Deficiency ◽

Cleft Lip ◽

De Novo ◽

Bone Dysplasia ◽

Hormone Deficiency ◽

Unbalanced Translocation ◽

Severe Mental Retardation ◽

Cleft Lip Palate

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A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy

Clinical Dysmorphology ◽

10.1097/00019605-199807000-00010 ◽

1998 ◽

Vol 7 (3) ◽

pp. 209-211

Author(s):

A Guala ◽

G Licardi ◽

M Maghnie ◽

S Minniti ◽

C Danesino

Keyword(s):

Growth Hormone ◽

Mental Retardation ◽

Growth Hormone Deficiency ◽

Hormone Deficiency ◽

Brain Anomalies

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Abstract #817 Growth Hormone Deficiency with Empty Sella Syndrome Secondary to Untreated Primary Hypothyroidism

Endocrine Practice ◽

10.1016/s1530-891x(20)47304-5 ◽

2018 ◽

Vol 24 ◽

pp. 180-181

Author(s):

Richa Arora

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Empty Sella ◽

Primary Hypothyroidism ◽

Hormone Deficiency ◽

Empty Sella Syndrome

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Cooperating on growth hormone deficiency

PsycEXTRA Dataset ◽

10.1037/e303592003-031 ◽

2001 ◽

Author(s):

Kathryn Foxhall

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Deficiency

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A marked increase in insulin binding and insulin sensitivity in patients with isolated growth hormone deficiency was recently found by researchers at the General Clinical Research Center of the Yale University School of Medicine

PsycEXTRA Dataset ◽

10.1037/e528622009-007 ◽

1979 ◽

Keyword(s):

Growth Hormone ◽

Insulin Sensitivity ◽

Clinical Research ◽

Growth Hormone Deficiency ◽

Insulin Binding ◽

Hormone Deficiency ◽

Yale University ◽

School Of Medicine ◽

Clinical Research Center ◽

General Clinical Research Center

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Growth hormone replacement in adults with severe growth hormone deficiency is effective even if baseline IGF-1 levels are in the normal range

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-0032-1330089 ◽

2012 ◽

Vol 120 (10) ◽

Author(s):

M Faust ◽

AC Åkerblad ◽

M Buchfelder ◽

G Johannsson ◽

P Jonsson ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Normal Range ◽

Severe Growth

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The effect of growth hormone replacement in adult growth hormone deficiency on the diurnal and ultradian dynamics of ghrelin, leptin, soluble leptin receptor and adiponectin

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2005-863021 ◽

2005 ◽

Vol 113 (S 1) ◽

Author(s):

F Joseph ◽

G Brabant ◽

A Ahmad ◽

W Fraser ◽

J Vora

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Leptin Receptor ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Adult Growth Hormone Deficiency ◽

Adult Growth ◽

Soluble Leptin Receptor

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The effect of growth hormone replacement therapy on lipids, LDL- and HDL-subfractions in patients with growth hormone deficiency

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2006-933085 ◽

2006 ◽

Vol 114 (S 1) ◽

Author(s):

T Minnemann ◽

S Lescher ◽

B Schamberger ◽

M Torzewski ◽

MM Weber ◽

...

Keyword(s):

Growth Hormone ◽

Hormone Replacement Therapy ◽

Growth Hormone Deficiency ◽

Replacement Therapy ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Hdl Subfractions ◽

Growth Hormone Replacement Therapy

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Growth hormone deficiency of childhood onset: developmental targets and adult risk

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2006-954692 ◽

2006 ◽

Vol 114 (08) ◽

Author(s):

A Attanasio

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Deficiency ◽

Childhood Onset

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Protein array reveals different protein levels in subcutaneous adipose tissue of patients with growth hormone deficiency in adulthood

Diabetologie und Stoffwechsel ◽

10.1055/s-2007-984749 ◽

2007 ◽

Vol 2 (04) ◽

Author(s):

D Gasperikova ◽

J Ukropec ◽

A Penesova ◽

M Skopkova ◽

M Vlcek ◽

...

Keyword(s):

Growth Hormone ◽

Adipose Tissue ◽

Growth Hormone Deficiency ◽

Subcutaneous Adipose Tissue ◽

Protein Array ◽

Hormone Deficiency ◽

Protein Levels ◽

Subcutaneous Adipose

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