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Total: 19 |
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| PMID (PMCID) | ||
|---|---|---|
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27112737 |
MALE | Young Adult |
| Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. | ||
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Moore MM, Bailey AM, Flannery AH, Baum RA. J Pharm Pract. 2017;30(4):468-475. |
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| Rabson-Mendenhall syndrome is a rare genetic disorder resulting from mutations in the insulin receptor and is associated with high degrees of insulin resistance. | ||
|
27891155 (5114824) |
OTHER | |
| Rabson Mendenhall Syndrome caused by a novel missense mutation. | ||
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Sinnarajah K, Dayasiri MB, Dissanayake ND, Kudagammana ST, Jayaweera AH. Int J Pediatr Endocrinol. 2016;2016:21. |
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| Rabson Mendenhall syndrome should be suspected in a patient with characteristic physical features, severe hyperglycemia and insulin resistance. | ||
|
27891155 (5114824) |
OTHER | |
| Rabson Mendenhall Syndrome caused by a novel missense mutation. | ||
|
Sinnarajah K, Dayasiri MB, Dissanayake ND, Kudagammana ST, Jayaweera AH. Int J Pediatr Endocrinol. 2016;2016:21. |
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| A diagnosis of Rabson Mendenhall syndrome was suspected based on his physical characteristics in the presence of insulin resistance. | ||
|
26438710 |
MALE | |
| Case Report: When an Induced Illness Looks Like a Rare Disease. | ||
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Rabbone I, Galderisi A, Tinti D, Ignaccolo MG, Barbetti F, Cerutti F. Pediatrics. 2015;136(5):e1361-5. |
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| All these features were compatible with Rabson-Mendenhall syndrome, a rare disorder of severe insulin resistance linked to mutations of insulin receptor. | ||
|
24468607 |
FEMALE | |
| Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome. | ||
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Dominguez-Garcia A, Martinez R, Urrutia I, Garin I, Castano L. J Pediatr Endocrinol Metab. 2014;27(5-6):561-4. |
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| We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome. | ||
|
23497647 (3598197) |
OTHER | |
| Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. | ||
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Chong YH, Taylor BJ, Wheeler BJ. J Diabetes Metab Disord. 2013;12(1):7. |
||
| Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. | ||
|
23824322 |
MIXED_SAMPLE | Infant, Newborn |
| Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? | ||
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Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Acta Diabetol. 2013;50(6):951-7. |
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| Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). | ||
|
22876563 |
MALE | Infant, Newborn |
| A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. | ||
|
Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y, Hasegawa T, Abe T. J Pediatr Endocrinol Metab. 2012;25(5-6):587-90. |
||
| Rabson-Mendenhall syndrome (RMS) is a genetic disorder characterized by severe insulin resistance and somatic characteristics. | ||
|
20155514 |
FEMALE | |
| Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. | ||
|
Bathi RJ, Parveen S, Mutalik S, Rao R. Odontology. 2010;98(1):89-96. |
||
| Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder characterized by insulin resistance syndrome, growth retardation, coarse and senile-looking faces, mental precocity, early dentition, and pineal hyperplasia. | ||
|
17849153 |
MALE | Child |
| Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. | ||
|
Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG. Pediatr Nephrol. 2007;22(12):2141-4. |
||
| Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance, extreme hyperinsulinemia, postprandial hyperglycemia, growth retardation, and dysmorphisms. | ||
|
17560154 |
MIXED_SAMPLE | Infant |
| Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type). | ||
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Fowlkes JL, Bunn RC, Coleman HN, Hall B, Reid MC, Thrailkill KM. Growth Horm IGF Res. 2007;17(5):399-407. |
||
| Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor. | ||
|
16127220 |
FEMALE | Child |
| A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. | ||
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Hashiramoto M, Osawa H, Ando M, Murakami A, Nishimiya T, Nakano M, Nishida W, Onuma H, Makino H. Endocr J. 2005;52(4):499-504. |
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| We have studied a 10-year-old Japanese girl with type A insulin resistance with hirsutism and hyperinsulinemia but without the dysmorphic features characteristic of leprechaunism or Rabson-Mendenhall syndrome. | ||
|
15232309 |
MIXED_SAMPLE | Child |
| Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. | ||
|
Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Medicine (Baltimore). 2004;83(4):209-22. |
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| We studied 8 female patients with the type A form of extreme insulin resistance and 3 patients (2 male and 1 female) with the Rabson-Mendenhall syndrome and followed the natural history of these patients for up to 30 years. | ||
|
15070911 |
MIXED_SAMPLE | Child |
| Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. | ||
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Cochran E, Young JR, Sebring N, DePaoli A, Oral EA, Gorden P. J Clin Endocrinol Metab. 2004;89(4):1548-54. |
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| We treated two siblings with Rabson-Mendenhall syndrome (severe insulin resistance and presumed insulin receptor mutations). | ||
|
15070911 |
MIXED_SAMPLE | Child |
| Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. | ||
|
Cochran E, Young JR, Sebring N, DePaoli A, Oral EA, Gorden P. J Clin Endocrinol Metab. 2004;89(4):1548-54. |
||
| Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. | ||
|
12970295 |
FEMALE | Infant |
| Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. | ||
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Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC. J Clin Endocrinol Metab. 2003;88(9):4251-7. |
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| The biochemical analysis of mutant insulin receptors does not reliably predict whether the phenotype will be leprechaunism, the Rabson-Mendenhall syndrome, or type A insulin resistance. | ||
|
9212040 |
MALE | Child |
| Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. | ||
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Desbois-Mouthon C, Magre J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Rizkalla S, Robert JJ, Capeau J. Pediatr Res. 1997;42(1):72-7. |
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| We have performed clinical, in vitro biochemical, and genetic studies of a patient with severe insulin resistance, considerable growth restriction, and Rabson-Mendenhall syndrome (patient RM-3). | ||
|
9212040 |
MALE | Child |
| Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. | ||
|
Desbois-Mouthon C, Magre J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Rizkalla S, Robert JJ, Capeau J. Pediatr Res. 1997;42(1):72-7. |
||
| Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. | ||
|
8270132 |
MIXED_SAMPLE | Child |
| An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. | ||
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Muller-Wieland D, van der Vorm ER, Streicher R, Krone W, Seemanova E, Dreyer M, Rudiger HW, Rosipal SR, Maassen JA. Diabetologia. 1993;36(11):1168-74. |
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| We have studied the structure and function of the insulin receptor in a patient (PK) with severe insulin resistance and Rabson-Mendenhall syndrome. | ||